Metabolic disease + all descendants

Coding system: SNOMED CT (UK Clinical Edition)
Coding system release: unknown
Author: Kate Mansfield
Codelist ID: user/kate-mansfield/metabolic-disease-all-descendants
Version ID: 1b51474f
Number of codes included: 2,939

Versions

Description

Metabolic disease (`75934005`) and all descendants.

Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.

We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.

code	term
10033001	Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
1003367004	Molybdenum cofactor deficiency complementation group A
1003368009	Molybdenum cofactor deficiency complementation group B
1003375005	Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency
1003387003	Molybdenum cofactor deficiency complementation group C
1003847003	Pyruvate dehydrogenase phosphatase deficiency
1003849000	Pyruvate dehydrogenase complex E2 subunit deficiency
1003850000	Pyruvate dehydrogenase complex E1-alpha subunit deficiency
1003851001	Pyruvate dehydrogenase complex E1 beta subunit deficiency
1003858007	Rhizomelic chondrodysplasia punctata type 3
1003860009	Rhizomelic chondrodysplasia punctata type 2
1003862001	Rhizomelic chondrodysplasia punctata type 1
1003938005	Phenylketonuria due to tetrahydrobiopterin deficiency
1010397000	Severe deficiency of glucose-6-phosphate dehydrogenase
101301000119106	Acute hypercapnic respiratory failure due to obstructive sleep apnea
10170007	Black locks, oculocutaneous albinism, AND deafness of the sensorineural type
10180006	Focal hemosiderosis
1033961000000104	Gouty tophi of toe
1038000	Disacchariduria
103931000119102	Hepatic coma due to hepatitis
10399008	Hypochloremia
10406007	Lesch-Nyhan syndrome
10469003	Chronic hypokalemia
10518000	North American Indian intrahepatic cholestasis
105401000119101	Diabetes mellitus due to pancreatic injury
105593004	Electrolyte imbalance
106000008	Metabolic renal disease
106281000119103	Pre-existing diabetes mellitus in mother complicating childbirth
10672271000119100	Acute-on-chronic hypoxemic respiratory failure
10676831000119101	Hypoxemic respiratory failure
1073961000119106	Gouty bursitis of right olecranon
1073971000119100	Gouty bursitis of left olecranon
1074001000119107	Arthritis of right foot due to gout
1074021000119103	Arthritis of left foot due to gout
1074031000119100	Arthritis of left great toe due to gout
10741005	Lipid storage disease
107421000119101	Neonatal acidosis
10743311000119103	Cutis laxa of bilateral upper eyelid
10743351000119102	Cutis laxa of bilateral lower eyelid
1075001000119108	Chronic tophaceous gout of right foot
1075021000119104	Chronic tophaceous gout of left foot
10753491000119101	Gestational diabetes mellitus in childbirth
10754881000119104	Diabetes mellitus in mother complicating childbirth
1082511000119102	Hepatic coma due to acute hepatic failure
1082621000119108	Hepatic coma due to alcoholic liver failure
1085091000119108	Hepatic coma due to chronic hepatic failure
10866001	Congenital pancreatic enterokinase deficiency
10877007	Perinatal jaundice due to hepatocellular damage
10899004	Classical galactosemia, homozygous Duarte-type
109041000119107	Complex dyslipidemia
1092691000119109	Hepatic coma due to subacute liver failure
109477002	Enamel-renal syndrome
111231000119109	Dyslipidemia with high density lipoprotein below reference range and triglyceride above reference range due to type 2 diabetes mellitus
111303009	Sjögren-Larsson syndrome
111307005	Leprechaunism syndrome
111377009	Metabolic acidosis, normal anion gap
111378004	Respiratory alkalosis
111382002	Chemically-induced lipidosis
111383007	Dysmorphic sialidosis, juvenile form
111385000	Tay-Sachs disease
111386004	Homozygous porphyria cutanea tarda
111387008	Porphyria caused by toxic effect of substance
111388003	Cutis laxa, autosomal dominant
111394006	Metabolic disorder of transport
111395007	Nephrogenic diabetes insipidus
111396008	Chédiak-Higashi syndrome
111397004	Saccharopinuria
111408001	Pseudohyperparathyroidism
111552007	Diabetes mellitus without complication
111556005	Ketoacidosis without coma due to diabetes mellitus
111559003	Spontaneous hypoglycemia
111567006	Refetoff syndrome
111569009	Hyperthermia-hyperphagia-hypothyroidism syndrome
11160000	Brown oculocutaneous albinism
11179002	Glycogen storage disease, type IV
11225002	Transient hyperammonemia in infancy
112421000119102	Dehydration due to radiation
11282001	Homocystinuria
112991000000101	Lipoatrophic diabetes mellitus without complication
11380006	Mucopolysaccharidosis
11455007	Lipoidosis
114831000119107	Hyperlipidemia caused by steroid
116020001	Disorder of branched-chain amino acid metabolism
116021002	Disorder of organic acid metabolism
11659006	Uremic neuropathy
11687002	Gestational diabetes mellitus
11718301000119106	Xanthoma of bilateral eyelids
11718351000119105	Xanthoma of bilateral upper eyelids
11718401000119103	Xanthoma of bilateral lower eyelids
118951003	Drug-induced nephrogenic diabetes insipidus
119181000119104	Hypothyroxinemia of prematurity
119247004	Hypoalbuminemia
119831000119106	Hypoglycemia unawareness due to type 2 diabetes mellitus
12002009	Functional hyperinsulinism
12045002	Tryptophanuria with dwarfism
12066005	Citrullinemia, late-onset type
120711000119108	Hypoglycemic unawareness due to type 1 diabetes mellitus
120731000119103	Hypoglycemia due to type 2 diabetes mellitus
12246008	Acute neuronopathic Gaucher's disease
122811000119101	Partial androgen insensitivity syndrome
12313004	Androgen resistance syndrome
12326000	Respiratory acidosis
123763000	Houssay's syndrome
123807007	Sodium disorder
123808002	Hypercupruria
123809005	Disorder of sulfur metabolism
123810000	Sulfatemia
123811001	Sulfatiduria
123812008	Zinc excess
123813003	Disorder of strontium metabolism
123814009	Strontium deficiency
123815005	Strontium excess
123816006	Strontiuresis
123963007	Disorder of cholesterol metabolism
123964001	Uroporphyrinuria
123965000	Coproporphyrinuria
123966004	Protoporphyrinuria
123967008	Tyrosinuria
123970007	Disorder of iodine metabolism
123977005	Etiocholanolone fever
12403008	Chronic hypernatremia
124109002	Deficiency of aldehyde reductase
124110007	Deficiency of uridine diphosphate-glucose dehydrogenase
124111006	Deficiency of histidinol dehydrogenase
124112004	Deficiency of quinate dehydrogenase
124113009	Deficiency of shikimate dehydrogenase
124115002	Deficiency of L-lactate dehydrogenase
124116001	Deficiency of D-lactate dehydrogenase
124118000	Deficiency of 3-hydroxybutyrate dehydrogenase
124119008	Deficiency of 3-hydroxyisobutyrate dehydrogenase
124120002	Deficiency of mevaldate reductase
124121003	Deficiency of hydroxymethylglutaryl-coenzyme A reductase (reduced nicotinamide adenine dinucleotide phosphate)
124122005	Deficiency of 3-hydroxyacyl-CoA dehydrogenase
124123000	Deficiency of acetoacetyl-coenzyme A reductase
124124006	Deficiency of malate dehydrogenase
124125007	Deficiency of malate dehydrogenase (oxaloacetate-decarboxylating)
124126008	Deficiency of malate dehydrogenase (decarboxylating)
124127004	Deficiency of isocitrate dehydrogenase (nicotinamide adenine dinucleotide ^+^)
124128009	Deficiency of phosphogluconate dehydrogenase
124129001	Deficiency of phosphogluconate dehydrogenase (decarboxylating)
124130006	Deficiency of L-gulonate dehydrogenase
124131005	Deficiency of L-arabinose dehydrogenase
124132003	Deficiency of glucose dehydrogenase
124133008	Deficiency of galactose dehydrogenase
124134002	Deficiency of glucose-6-phosphate dehydrogenase
124135001	Deficiency of 3alpha-hydroxysteroid dehydrogenase
124136000	Deficiency of 3beta-hydroxysteroid dehydrogenase
124137009	Deficiency of 3alpha-hydroxycholanate dehydrogenase
124138004	Deficiency of (R)-20-hydroxysteroid dehydrogenase
124139007	Deficiency of mannitol dehydrogenase
124140009	Deficiency of inosine monophosphate dehydrogenase
124141008	Deficiency of L-lactate dehydrogenase (cytochrome)
124142001	Deficiency of malate oxidase
124143006	Deficiency of glucose oxidase
124144000	Deficiency of hexose oxidase
124145004	Deficiency of cholesterol oxidase
124146003	Deficiency of (S)-2-hydroxy-acid oxidase
124147007	Deficiency of xanthine oxidase
124148002	Deficiency of choline dehydrogenase
124149005	Deficiency of 2-hydroxyglutarate dehydrogenase
124150005	Deficiency of gluconate 2-dehydrogenase
124151009	Deficiency of dehydrogluconate dehydrogenase
124152002	Deficiency of D-2-hydroxy-acid dehydrogenase
124153007	Deficiency of uracil dehydrogenase
124154001	Deficiency of formate dehydrogenase
124155000	Deficiency of aldehyde dehydrogenase (nicotinamide adenine dinucleotide ^+^)
124156004	Deficiency of benzaldehyde dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^)
124157008	Deficiency of betaine-aldehyde dehydrogenase
124158003	Deficiency of glyceraldehyde-3-phosphate dehydrogenase
124159006	Deficiency of formaldehyde dehydrogenase
124161002	Deficiency of aldehyde oxidase
124162009	Deficiency of oxoglutarate dehydrogenase (lipoamide)
124163004	Deficiency of dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide ^+^)
124164005	Deficiency of galactonolactone dehydrogenase
124165006	Deficiency of succinate dehydrogenase
124166007	Deficiency of butyryl-CoA dehydrogenase
124168008	Deficiency of alanine dehydrogenase
124169000	Deficiency of glutamate dehydrogenase
124170004	Deficiency of D-aspartate oxidase
124171000	Deficiency of L-amino-acid oxidase
124172007	Deficiency of D-amino-acid oxidase
124174008	Deficiency of pyridoxamine-phosphate oxidase
124175009	Deficiency of amine oxidase (copper-containing)
124176005	Deficiency of pyrroline-2-carboxylate reductase
124177001	Deficiency of pyrroline-5-carboxylate reductase
124178006	Deficiency of dihydrofolate reductase
124179003	Deficiency of methylenetetrahydrofolate dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^)
124180000	Deficiency of nicotinate dehydrogenase
124181001	Deficiency of sarcosine oxidase
124182008	Deficiency of N-methyl-L-amino-acid oxidase
124183003	Deficiency of nicotinamide adenine dinucleotide phosphate ^+^ transhydrogenase
124184009	Deficiency of cytochrome-b>5< reductase
124185005	Deficiency of reduced nicotinamide adenine dinucleotide phosphate-ferrihemoprotein reductase
124186006	Deficiency of NAPH cytochrome-c>2< reductase
124187002	Deficiency of cystine reductase (reduced nicotinamide adenine dinucleotide)
124188007	Deficiency of glutathione reductase (reduced nicotinamide adenine dinucleotide phosphate)
124189004	Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon)
124190008	Deficiency of monodehydroascorbate reductase (reduced nicotinamide adenine dinucleotide)
124191007	Deficiency of azobenzene reductase
124192000	Deficiency of reduced nicotinamide adenine dinucleotide phosphate dehydrogenase (quinone)
124193005	Deficiency of urate oxidase
124194004	Deficiency of nitrate reductase
124197006	Deficiency of glutathione-homocystine transhydrogenase
124198001	Deficiency of sulfite reductase
124200007	Deficiency of catechol oxidase
124201006	Deficiency of cytochrome-c peroxidase
124202004	Deficiency of catalase
124203009	Deficiency of peroxidase
124204003	Deficiency of iodide peroxidase
124205002	Deficiency of protocatechuate 3,4-dioxygenase
124206001	Deficiency of gentisate l,2-dioxygenase
124208000	Deficiency of tryptophan 2,3-dioxygenase
124209008	Deficiency of cysteamine dioxygenase
124211004	Deficiency of myo-inositol oxygenase
124212006	Deficiency of kynurenine 3-monooxygenase
124213001	Deficiency of unspecific monooxygenase
124214007	Deficiency of steroid 11-beta-monooxygenase
124215008	Deficiency of phenylalanine 4-monooxygenase
124216009	Deficiency of tryptophan 5-monooxygenase
124219002	Deficiency of squalene monooxygenase
124220008	Deficiency of steroid 17-alpha-monooxygenase
124221007	Deficiency of steroid 21-monooxygenase
124222000	Deficiency of estradiol 6beta-monooxygenase
124223005	Deficiency of progesterone 11alpha-monooxygenase
124224004	Deficiency of ferroxidase
124226002	Deficiency of dehydrogenase
124228001	Deficiency of oxidase
124230004	Deficiency of oxygenase
124232007	Deficiency of monooxygenase
124234008	Deficiency of dioxygenase
124236005	Deficiency of reductase
124237001	Deficiency of transferase
124238006	Deficiency of nicotinamide methyltransferase
124239003	Deficiency of guanidinoacetate methyltransferase
124240001	Deficiency of thetin-homocysteine methyltransferase
124241002	Deficiency of acetylserotonin methyltransferase
124242009	Deficiency of betaine-homocysteine methyltransferase
124243004	Deficiency of glycine hydroxymethyltransferase
124244005	Deficiency of phosphoribosylglycinamide formyltransferase
124245006	Deficiency of phosphoribosylaminoimidazolecarboxamide formyltransferase
124246007	Deficiency of glycine formiminotransferase
124248008	Deficiency of aspartate carbamoyltransferase
124250000	Deficiency of glycine amidinotransferase
124251001	Deficiency of transketolase
124252008	Deficiency of transaldolase
124253003	Deficiency of glucosamine acetyltransferase
124254009	Deficiency of glucosamine-phosphate acetyltransferase
124255005	Deficiency of arylamine acetyltransferase
124256006	Deficiency of choline acetyltransferase
124257002	Deficiency of carnitine acetyltransferase
124258007	Deficiency of acetyl-coenzyme A acetyltransferase
124259004	Deficiency of hydrogen-sulfide acetyltransferase
124260009	Deficiency of thioethanolamine acetyltransferase
124261008	Deficiency of dihydrolipoamide acetyltransferase
124262001	Deficiency of glycine acyltransferase
124263006	Deficiency of glutamine phenylacetyltransferase
124264000	Deficiency of glycerol-3-phosphate acyltransferase
124265004	Deficiency of acetyl-coenzyme A acyltransferase
124266003	Deficiency of maltose phosphorylase
124267007	Deficiency of 1,4-alpha-glucan branching enzyme
124268002	Deficiency of 1,4-alpha-glucan 6alpha-glucosyltransferase
124269005	Deficiency of 1,3-beta-glucan synthase
124270006	Deficiency of alpha-1,4-glucan-protein synthase (uridine diphosphate-forming)
124272003	Deficiency of uridine phosphorylase
124273008	Deficiency of thymidine phosphorylase
124274002	Deficiency of adenine phosphoribosyltransferase
124275001	Deficiency of hypoxanthine phosphoribosyltransferase
124276000	Deficiency of uracil phosphoribosyltransferase
124277009	Deficiency of orotate phosphoribosyltransferase
124278004	Deficiency of nicotinate phosphoribosyltransferase
124279007	Deficiency of nicotinamide phosphoribosyltransferase
124280005	Deficiency of amidophosphoribosyltransferase
124281009	Deficiency of dimethylallyltranstransferase
124282002	Deficiency of thiamine pyridinylase
124283007	Deficiency of methionine adenosyltransferase
124284001	Deficiency of aspartate aminotransferase
124285000	Deficiency of alanine aminotransferase
124286004	Deficiency of cysteine aminotransferase
124287008	Deficiency of tyrosine aminotransferase
124288003	Deficiency of leucine aminotransferase
124289006	Deficiency of kynurenine-oxoglutarate aminotransferase
124290002	Deficiency of 2,5-diaminovalerate aminotransferase
124291003	Deficiency of alanine-oxo-acid aminotransferase
124293000	Deficiency of asparagine-oxo-acid aminotransferase
124294006	Deficiency of glutamine-pyruvate aminotransferase
124295007	Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing)
124296008	Deficiency of oximinotransferase
124297004	Deficiency of hexokinase
124298009	Deficiency of glucokinase
124299001	Deficiency of ketohexokinase
124300009	Deficiency of fructokinase
124301008	Deficiency of rhamnulokinase
124302001	Deficiency of galactokinase
124303006	Deficiency of mannokinase
124304000	Deficiency of glucosamine kinase
124305004	Deficiency of phosphoglucokinase
124306003	Deficiency of 6-phosphofructokinase
124307007	Deficiency of gluconokinase
124308002	Deficiency of dehydrogluconokinase
124309005	Deficiency of sedoheptulokinase
124310000	Deficiency of ribokinase
124311001	Deficiency of ribulokinase
124312008	Deficiency of xylulokinase
124313003	Deficiency of phosphoribokinase
124314009	Deficiency of adenosine kinase
124315005	Deficiency of ribosylnicotinamide kinase
124316006	Deficiency of nicotinamide adenine dinucleotide ^+^ kinase
124317002	Deficiency of dephospho-coenzyme A kinase
124318007	Deficiency of adenylylsulfate kinase
124319004	Deficiency of riboflavin kinase
124320005	Deficiency of erythritol kinase
124321009	Deficiency of triokinase
124322002	Deficiency of glycerol kinase
124323007	Deficiency of glycerate kinase
124324001	Deficiency of choline kinase
124325000	Deficiency of pantetheine kinase
124326004	Deficiency of pyridoxal kinase
124327008	Deficiency of mevalonate kinase
124329006	Deficiency of phosphorylase kinase
124330001	Deficiency of homoserine kinase
124331002	Deficiency of pyruvate kinase
124332009	Deficiency of glucose-1-phosphate phosphodismutase
124333004	Deficiency of acetate kinase
124334005	Deficiency of carbamate kinase
124335006	Deficiency of phosphoglycerate kinase
124336007	Deficiency of aspartate kinase
124337003	Deficiency of guanidinoacetate kinase
124338008	Deficiency of creatine kinase
124339000	Deficiency of phosphomevalonate kinase
124340003	Deficiency of adenylate kinase
124341004	Deficiency of nucleoside-phosphate kinase
124342006	Deficiency of nucleoside-diphosphate kinase
124343001	Deficiency of ribose-phosphate pyrophosphokinase
124344007	Deficiency of thiamine pyrophosphokinase
124345008	Deficiency of nicotinamide-nucleotide adenylyltransferase
124346009	Deficiency of riboflavin mononucleotide adenylyltransferase
124347000	Deficiency of pantetheine-phosphate adenylyltransferase
124348005	Deficiency of sulfate adenylyltransferase (adenosine diphosphate)
124349002	Deficiency of deoxyribonucleic acid-directed ribonucleic acid polymerase
124350002	Deficiency of deoxyribonucleic acid-directed deoxyribonucleic acid polymerase
124351003	Deficiency of polyribonucleotide nucleotidyltransferase
124352005	Deficiency of uridine triphosphate-glucose-1-phosphate uridylyltransferase
124354006	Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase
124355007	Deficiency of ethanolamine-phosphate cytidylyltransferase
124356008	Deficiency of choline-phosphate cytidylyltransferase
124357004	Deficiency of deoxyribonucleic acid nucleotidylexotransferase
124358009	Deficiency of ethanolaminephosphotransferase
124359001	Deficiency of cholinephosphotransferase
124360006	Deficiency of thiosulfate sulfurtransferase
124361005	Deficiency of 3-mercaptopyruvate sulfurtransferase
124362003	Deficiency of aryl sulfotransferase
124363008	Deficiency of alcohol sulfotransferase
124364002	Deficiency of oxalate coenzyme A-transferase
124365001	Deficiency of malonate CoA-transferase
124366000	Deficiency of 3-oxoacid coenzyme A-transferase
124367009	Deficiency of 3-oxoadipate coenzyme A-transferase
124368004	Deficiency of butyrate-acetoacetate coenzyme A-transferase
124370008	Deficiency of methyltransferase
124372000	Deficiency of transhydroxymethylase
124374004	Deficiency of transformylase
124376002	Deficiency of transformiminase
124378001	Deficiency of transcarboxylase
124380007	Deficiency of transcarbamoylase
124382004	Deficiency of transacylase
124384003	Deficiency of aminoacyltransferase
124386001	Deficiency of glycosyltransferase
124388000	Deficiency of hexosyltransferase
124390004	Deficiency of pentosyltransferase
124392007	Deficiency of amidinotransferase
124394008	Deficiency of aminotransferase
124396005	Deficiency of phosphotransferase
124398006	Deficiency of pyrophosphotransferase
124400005	Deficiency of sulfurtransferase
124402002	Deficiency of sulfotransferase
124404001	Deficiency of coenzyme-A transferase
124406004	Deficiency of nucleotidyltransferase
124407008	Deficiency of hydrolase
124408003	Deficiency of carboxylesterase
124409006	Deficiency of arylesterase
124410001	Deficiency of triacylglycerol lipase
124411002	Deficiency of phospholipase A>2<
124412009	Deficiency of lysophospholipase
124416007	Deficiency of tropinesterase
124418008	Deficiency of cholesterol esterase
124419000	Deficiency of chlorophyllase
124421005	Deficiency of uronolactonase
124422003	Deficiency of tannase
124423008	Deficiency of retinyl-palmitate esterase
124426000	Deficiency of succinyl-coenzyme A hydrolase
124427009	Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase
124428004	Deficiency of hydroxymethylglutaryl-CoA hydrolase
124429007	Deficiency of hydroxyacylglutathione hydrolase
124430002	Deficiency of glutathione thiolesterase
124432005	Deficiency of phosphoserine phosphatase
124433000	Deficiency of phosphatidate phosphatase
124434006	Deficiency of 5'-nucleotidase
124435007	Deficiency of 3'-nucleotidase
124436008	Deficiency of phosphoadenylate 3'-nucleotidase
124437004	Deficiency of glucose-6-phosphatase
124438009	Deficiency of glucose-1-phosphatase
124439001	Deficiency of fructose-bisphosphatase
124440004	Deficiency of bisphosphoglycerate phosphatase
124441000	Deficiency of phosphoprotein phosphatase
124442007	Deficiency of phosphorylase phosphatase
124443002	Deficiency of nucleotidase
124444008	Deficiency of glycerophosphocholine phosphodiesterase
124445009	Deficiency of phospholipase C
124448006	Deficiency of glycosulfatase
124450003	Deficiency of deoxyribonuclease I
124451004	Deficiency of deoxyribonuclease II
124452006	Deficiency of alpha-amylase
124453001	Deficiency of beta-amylase
124454007	Deficiency of glucan 1,4-alpha-glucosidase
124455008	Deficiency of cellulase
124456009	Deficiency of endo-1,3(4)-beta-glucanase
124458005	Deficiency of dextranase
124459002	Deficiency of polygalacturonase
124460007	Deficiency of lysozyme
124461006	Deficiency of sialidase
124462004	Deficiency of alpha-glucosidase
124463009	Deficiency of beta-glucosidase
124464003	Deficiency of alpha-galactosidase
124465002	Deficiency of beta-galactosidase
124466001	Deficiency of alpha-mannosidase
124467005	Deficiency of beta-fructofuranosidase
124469008	Deficiency of N-acetyl-beta-glucosaminidase
124470009	Deficiency of beta-glucuronidase
124471008	Deficiency of xylan endo-1,3-beta-xylosidase
124472001	Deficiency of amylo-1,6-glucosidase
124473006	Deficiency of hyaluronoglucosaminidase
124475004	Deficiency of lichenase
124476003	Deficiency of glucan 1,3-alpha-glucosidase
124478002	Deficiency of adenosine monophosphate nucleosidase
124480008	Deficiency of nicotinamide adenine dinucleotide phosphate ^+^ nucleosidase
124481007	Deficiency of adenosylhomocysteinase
124483005	Deficiency of tripeptide aminopeptidase
124486002	Deficiency of cysteinyl-glycine dipeptidase
124489009	Deficiency of dipeptidase
124491001	Deficiency of serine carboxypeptidase
124492008	Deficiency of carboxypeptidase A
124493003	Deficiency of carboxypeptidase B
124496006	Deficiency of thrombin
124497002	Deficiency of plasmin
124498007	Deficiency of enteropeptidase
124499004	Deficiency of pancreatic elastase
124501007	Deficiency of pepsin A
124502000	Deficiency of pepsin B
124503005	Deficiency of chymosin
124504004	Deficiency of renin
124505003	Deficiency of peptidoglycan endopeptidase
124507006	Deficiency of glutaminase
124508001	Deficiency of w-amidase
124509009	Deficiency of amidase
124510004	Deficiency of urease
124511000	Deficiency of beta-ureidopropionase
124512007	Deficiency of formyltetrahydrofolate deformylase
124514008	Deficiency of formamidase
124516005	Deficiency of dihydroorotase
124517001	Deficiency of allantoinase
124519003	Deficiency of allantoicase
124520009	Deficiency of arginine deiminase
124521008	Deficiency of adenine deaminase
124522001	Deficiency of guanine deaminase
124524000	Deficiency of cytidine deaminase
124525004	Deficiency of adenosine monophosphate deaminase
124526003	Deficiency of adenosine diphosphate deaminase
124527007	Deficiency of methenyltetrahydrofolate cyclohydrolase
124528002	Deficiency of inosine monophosphate cyclohydrolase
124529005	Deficiency of inorganic pyrophosphatase
124530000	Deficiency of trimetaphosphatase
124531001	Deficiency of adenosinetriphosphatase
124532008	Deficiency of nucleoside-diphosphatase
124533003	Deficiency of acylphosphatase
124534009	Deficiency of adenosine triphosphate pyrophosphatase
124535005	Deficiency of nucleotide pyrophosphatase
124536006	Deficiency of fumarylacetoacetase
124538007	Deficiency of diisopropyl-fluorophosphatase
124539004	Deficiency of phosphoamidase
124541003	Deficiency of carboxylic ester hydrolase
124543000	Deficiency of thiolester hydrolase
124547004	Deficiency of phosphoric diester hydrolase
124549001	Deficiency of triphosphoric monoester hydrolase
124553004	Deficiency of diphosphoric monoester hydrolase
124557003	Deficiency of nucleosidase
124559000	Deficiency of thioether hydrolase
124561009	Deficiency of ether hydrolase
124563007	Deficiency of peptide hydrolase
124565000	Deficiency of alpha-aminoacylpeptide hydrolase
124567008	Deficiency of dipeptide hydrolase
124569006	Deficiency of dipeptidylpeptide hydrolase
124573009	Deficiency of ribonuclease
124575002	Deficiency of exoribonuclease
124577005	Deficiency of endoribonuclease
124579008	Deficiency of metallocarboxypeptidase
124581005	Deficiency of cysteine carboxypeptidase
124583008	Deficiency of omega peptidase
124585001	Deficiency of serine proteinase
124587009	Deficiency of cysteine proteinase
124589007	Deficiency of aspartic proteinase
124591004	Deficiency of metalloproteinase
124592006	Deficiency of lyase
124593001	Deficiency of pyruvate decarboxylase
124594007	Deficiency of malonyl-coenzyme A decarboxylase
124595008	Deficiency of aspartate 4-decarboxylase
124596009	Deficiency of glutamate decarboxylase
124597000	Deficiency of phosphoribosylaminoimidazole carboxylase
124598005	Deficiency of histidine decarboxylase
124599002	Deficiency of tyrosine decarboxylase
124600004	Deficiency of aromatic-L-amino-acid decarboxylase
124601000	Deficiency of sulfinoalanine decarboxylase
124602007	Deficiency of pantothenoylcysteine decarboxylase
124604008	Deficiency of diphosphomevalonate decarboxylase
124605009	Deficiency of ketotetrose-phosphate aldolase
124606005	Deficiency of threonine aldolase
124607001	Deficiency of phosphoketolase
124608006	Deficiency of fructose-bisphosphate aldolase
124609003	Deficiency of isocitrate lyase
124610008	Deficiency of N-acetylneuraminate lyase
124611007	Deficiency of hydroxymethylglutaryl-CoA lyase
124612000	Deficiency of hydroxymethylglutaryl-coenzyme A synthase
124613005	Deficiency of citrate(si)-synthase
124614004	Deficiency of 4-hydroxy-2-oxoglutarate aldolase
124615003	Deficiency of carbonate dehydratase
124616002	Deficiency of fumarate hydratase
124617006	Deficiency of aconitate hydratase
124618001	Deficiency of enolase
124619009	Deficiency of L-serine ammonia-lyase
124620003	Deficiency of threonine dehydratase
124621004	Deficiency of enoyl-coenzyme A hydratase
124622006	Deficiency of methylglutaconyl-coenzyme A hydratase
124625008	Deficiency of hyaluronate lyase
124626009	Deficiency of heparin lyase
124628005	Deficiency of histidine ammonia-lyase
124629002	Deficiency of formiminotetrahydrofolate cyclodeaminase
124633009	Deficiency of homocysteine desulfhydrase
124634003	Deficiency of lactoylglutathione lyase
124636001	Deficiency of carbon-carbon lyase
124638000	Deficiency of carboxy-lyase
124640005	Deficiency of aldehyde-lyase
124642002	Deficiency of oxo-acid-lyase
124644001	Deficiency of carbon-oxygen lyase
124646004	Deficiency of hydrolyase
124648003	Deficiency of carbon-nitrogen lyase
124650006	Deficiency of ammonia-lyase
124652003	Deficiency of carbon-sulfur lyase
124654002	Deficiency of carbon-halide lyase
124656000	Deficiency of phosphorus-oxygen lyase
124657009	Deficiency of isomerase
124658004	Deficiency of lysine racemase
124659007	Deficiency of lactate racemase
124660002	Deficiency of 3-hydroxybutyryl-coenzyme A epimerase
124661003	Deficiency of ribulose-phosphate 3-epimerase
124663000	Deficiency of aldose 1-epimerase
124664006	Deficiency of maleylacetoacetate isomerase
124665007	Deficiency of retinal isomerase
124667004	Deficiency of ribose-5-phosphate isomerase
124668009	Deficiency of mannose-6-phosphate isomerase
124669001	Deficiency of glucose-6-phosphate isomerase
124670000	Deficiency of glucosamine-6-phosphate isomerase
124671001	Deficiency of phenylpyruvate tautomerase
124672008	Deficiency of steroid delta-isomerase
124673003	Deficiency of isopentenyl-diphosphate delta-isomerase
124674009	Deficiency of lysolecithin acylmutase
124675005	Deficiency of phosphoglycerate mutase
124676006	Deficiency of phosphoglucomutase
124677002	Deficiency of phosphoacetylglucosamine mutase
124678007	Deficiency of bisphosphoglycerate mutase
124679004	Deficiency of methylaspartate mutase
124680001	Deficiency of methylmalonyl-coenzyme A mutase
124682009	Deficiency of epimerase
124684005	Deficiency of racemase
124686007	Deficiency of mutase
124687003	Deficiency of ligase
124688008	Deficiency of tyrosine-transfer ribonucleic acid ligase
124689000	Deficiency of tryptophan-transfer ribonucleic acid ligase
124690009	Deficiency of threonine-transfer ribonucleic acid ligase
124691008	Deficiency of leucine-transfer ribonucleic acid ligase
124692001	Deficiency of isoleucine-transfer ribonucleic acid ligase
124693006	Deficiency of lysine-transfer ribonucleic acid ligase
124694000	Deficiency of alanine-transfer ribonucleic acid ligase
124695004	Deficiency of valine-transfer ribonucleic acid ligase
124696003	Deficiency of methionine-transfer ribonucleic acid ligase
124697007	Deficiency of serine-transfer ribonucleic acid ligase
124698002	Deficiency of acetate-coenzyme A ligase
124699005	Deficiency of long-chain-fatty-acid-CoA ligase
124700006	Deficiency of succinate- coenzyme A ligase (guanosine diphosphate-forming)
124701005	Deficiency of succinate-coenzyme A ligase (adenosine diphosphate-forming)
124702003	Deficiency of glutarate-CoA ligase
124703008	Deficiency of cholate-CoA ligase
124704002	Deficiency of glutamate-ammonia ligase
124706000	Deficiency of glutathione synthase
124707009	Deficiency of phosphopantothenate-cysteine ligase
124708004	Deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase
124709007	Deficiency of phosphoribosylformylglycinamidine cyclo-ligase
124710002	Deficiency of formate-tetrahydrofolate ligase
124711003	Deficiency of argininosuccinate synthase
124712005	Deficiency of phosphoribosylamine-glycine ligase
124713000	Deficiency of nicotinamide adenine dinucleotide ^+^ synthase (glutamine-hydrolysing)
124714006	Deficiency of guanosine monophosphate synthase (glutamine-hydrolysing)
124715007	Deficiency of phosphoribosylformylglycinamidine synthase
124718009	Deficiency of propionyl-coenzyme A carboxylase
124721006	Deficiency of acid-ammonia ligase
124723009	Deficiency of acid-aminoacid ligase
125921000119106	Hepatic coma due to acute hepatitis C
126533001	Disorder with defective osteoid mineralization
126877002	Disorder of glucose metabolism
127012008	Lipoatrophic diabetes
127339009	Acute metabolic disorder
12770006	Cyanotic congenital heart disease
128190004	Inherited metabolic disorder of nervous system
128264007	Impaired glucose tolerance with hyperinsulism
128289001	Chronic metabolic disorder
128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency
12901004	Transitory neonatal electrolyte disturbance
129456006	Specific enzyme deficiency
12957008	Disorder of phenylalanine metabolism
129589009	Endogenous hyperlipidemia
129590000	Exogenous hyperlipidemia
129591001	Mixed hypercholesterolemia and hypertriglyceridemia
129644003	Myeloperoxidase deficiency syndrome
129645002	Adult glucose-6-phosphate dehydrogenase deficiency of leukocytes syndrome
13003007	Cystathioninuria
1310004	Impaired glucose tolerance associated with genetic syndrome
13144005	Methylcrotonyl-coenzyme A carboxylase deficiency
13196008	Secondary diabetes insipidus
13306007	Pipecolic acidemia
133791000119107	Mitochondrial metabolism defect
13490001000004105	D-lactic acidosis
13644009	Hypercholesterolemia
137421000119106	Graves' disease in remission
137931000119102	Hyperlipidemia due to type 2 diabetes mellitus
137941000119106	Hyperlipidemia due to type 1 diabetes mellitus
13795004	Neonatal thyrotoxicosis
13866000	Fetal acidemia affecting management of mother
1388004	Metabolic alkalosis
13901000119100	Hypocalciuric hypercalcemia
13920009	Hepatic encephalopathy
14052004	Impaired glucose tolerance in and individual with a heritable form of maturity onset diabetes in the young
14140009	Hyperkalemia
14210003	Lipofuscinosis
143101000119101	Hemochromatosis following repeated red blood cell transfusion
14637005	Late-infantile neuronal ceroid lipofuscinosis
146371000119104	Hepatic coma due to chronic hepatitis C
147211000119101	Disorder of plasma protein metabolism
14725002	Idiopathic postprandial hypoglycemia
14763005	Tophus of ear co-occurrent and due to gout
14783006	Hyperbilirubinemia
1481000119100	Diabetes mellitus type 2 without retinopathy
15059000	Retinal dystrophy in systemic lipidosis
15285008	Adenylosuccinate lyase deficiency
153091000119109	Hepatic coma due to chronic hepatitis B with delta agent
15346004	Familial hypoalphalipoproteinemia
15470004	Toxic diffuse goiter with acropachy
15616006	Disorder of trace mineral metabolism
15689008	Pseudohypoaldosteronism, type 2
15707004	Hypercapnia with mixed acid-base disorder
1571000119104	Mixed hyperlipidemia due to type 1 diabetes mellitus
15770003	Acute cholestatic jaundice syndrome
15771000119109	Familial hyperalphalipoproteinemia
15771004	Diabetes insipidus
15877009	Cyclic premenstrual unconjugated hyperbilirubinemia
15890002	Albinism
15892005	Mucopolysaccharidosis III-D
1592005	Failed attempted abortion with uremia
15978003	Glycogen storage disease, muscular form
15991002	Severe steroid 21-hydroxylase deficiency
16005991000119109	Tophus of bilateral elbows co-occurrent and due to gout
16006551000119104	Tophus of right hand co-occurrent and due to gout
16006591000119109	Tophus of left hand co-occurrent and due to gout
16006631000119109	Tophus of bilateral hands co-occurrent and due to gout
1601000119105	Moderate dehydration
16010751000119107	Gouty arthritis of bilateral great toes
16015911000119102	Gouty arthritis of bilateral ankles
16015951000119101	Gouty arthritis of bilateral feet
16040031000119108	Chronic tophaceous gout of bilateral elbows
16040071000119106	Chronic tophaceous gout of bilateral hands
16060001	Hepatic coma due to viral hepatitis A
16068331000119102	Neonatal metabolic acidemia
16068491000119107	Arthritis of bilateral knees due to gout
16075931000119103	Tophus of right foot co-occurrent and due to gout
16076011000119100	Tophus of bilateral feet co-occurrent and due to gout
16076051000119104	Tophus of left elbow co-occurrent and due to gout
16076131000119106	Tophus of right elbow co-occurrent and due to gout
16076171000119109	Tophus of left foot co-occurrent and due to gout
1611000119108	Mild dehydration
16195001	Parathyroid hypocalcemic tetany
16242007	Hereditary orotic aciduria
16279005	Disorder of neurometabolic regulation
16517004	Cerebral lipidosis
16652001	Fabry's disease
16716281000119108	Neonatal jaundice due to ABO incompatibility
16754006	Disorder of selenium metabolism
16784003	Amino acid transport disorder
16813005	Hyperuricuria
1682008	Transitory amino acid metabolic disorder
16851005	Mitochondrial myopathy
16914911000119107	Neonatal transient hypochloremia
16966009	Factitious hypoglycemia
17025000	Ehlers-Danlos syndrome, type 4
170765005	Chronic hyperglycemia
170766006	Loss of hypoglycemic warning due to diabetes mellitus
1776003	Renal tubular acidosis
17827007	Cross syndrome
17885001	Iodotyrosine deiodination defect
17901006	Primary hyperoxaluria
180485001	Kerasin thesaurismosis
18104000	Metabolic acidosis, normal anion gap, acidifying salts
1822007	Impaired glucose tolerance associated with pancreatic disease
1860003	Fluid volume disorder
186624004	Hepatic coma due to acute hepatitis B with delta agent
186628001	Hepatic coma due to viral hepatitis C
18684002	Illegal abortion complicated by metabolic disorder
18756002	Juvenile GM1 gangliosidosis
18789002	Tryptophanuria
18829008	Electrolyte depletion
18927009	Niemann-Pick disease, type D
190241003	Toxic diffuse goiter with no crisis
190242005	Toxic diffuse goiter with crisis
190244006	Toxic uninodular goiter with no crisis
190247004	Toxic multinodular goiter with no crisis
190304001	Dyshormonogenic goiter
190330002	Hyperosmolar coma due to type 1 diabetes mellitus
190331003	Hyperosmolar coma due to type 2 diabetes mellitus
190368000	Type I diabetes mellitus with ulcer
190372001	Type I diabetes mellitus maturity onset
190389009	Type II diabetes mellitus with ulcer
190406000	Ketoacidosis due to malnutrition related diabetes mellitus
190407009	Malnutrition-related diabetes mellitus with renal complications
190410002	Malnutrition-related diabetes mellitus with peripheral circulatory complications
190412005	Malnutrition-related diabetes mellitus without complications
190416008	Steroid-induced diabetes mellitus without complication
190429008	Self-induced hyperinsulinemia
190447002	Steroid-induced diabetes
190448007	Drug-induced hypoglycemia without coma
190512008	Acquired adrenogenital syndrome
190640006	Active rickets
190643008	Puerperal osteomalacia
190644002	Senile osteomalacia
190645001	Adult osteomalacia due to malabsorption
190646000	Adult osteomalacia due to malnutrition
190680002	Disorders of amino acid transport and metabolism
190681003	Cystinosis
190682005	Cystinemia
190694001	Tyrosinemia
190701006	Isoleucinosis
190722000	Disorder of threonine metabolism
190724004	Disorder of glutamine metabolism
190732007	Alaninemia
190737001	Iminoacidopathy
190745006	Galactosemia
190749000	Glucose-galactose malabsorption
190755005	Sucrosuria
190760009	Disorders of pyruvate metabolism and gluconeogenesis
190764000	Essential pentosuria
190773008	Hyperbetalipoproteinemia
190774002	Hyperlipidemia, group A
190785000	Hypoalphalipoproteinemia
190786004	Hypo-beta-lipoproteinemia
190787008	Abetalipoproteinemia
190794006	Glucosylceramide beta-glucosidase deficiency
190829000	Chronic urate nephropathy
190842000	Tophus of hand co-occurrent and due to gout
190846002	Hemosiderosis, primary
190847006	Hemosiderosis, acquired
190855004	Hypomagnesemia
190856003	Hypomagnesemic tetany
190859005	Hypophosphatasia
190860000	Hypophosphatasia rickets
190866006	Idiopathic hypercalcemia
190869004	Hypocalcemic tetany
190882007	Lactic acidemia
190884008	Respiratory acidemia
190888006	Metabolic alkalemia
190889003	Respiratory alkalemia
190894003	Isonatremic dehydration
190902006	Fluid imbalance
190913009	Congenital porphyria
190915002	Coproporphyria
190919008	Xanthinuria
190920002	Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
190932003	Disorders of bilirubin excretion
190948002	Defect in post-translational modification of lysosomal enzymes
190952002	Enterokinase deficiency
190953007	Trypsinogen deficiency
191172001	Favism
192782005	Galactosylceramide beta-galactosidase deficiency
192787004	B variant hexosaminidase A deficiency
192788009	Retinal dystrophy in cerebroretinal lipidosis
192812009	Cerebral degeneration due to beriberi
192816007	Myxedema encephalopathy
192817003	Cerebral degeneration due to vitamin B12 deficiency
194909006	Acute pericarditis co-occurrent and due to uremia
19604005	Triglyceride storage disease with ichthyosis
19726003	Cutis laxa, acquired type
197483008	Post gastrointestinal tract surgery hypoglycemia
198121000000103	Hypoglycaemic warning impaired
198131000000101	Hypoglycaemic warning good
198709007	Incomplete legal abortion with metabolic disorder
198748007	Incomplete illegal abortion with metabolic disorder
199223000	Diabetes mellitus during pregnancy, childbirth and the puerperium
199225007	Diabetes mellitus during pregnancy - baby delivered
199226008	Diabetes mellitus in the puerperium - baby delivered during current episode of care
199227004	Diabetes mellitus during pregnancy - baby not yet delivered
199228009	Diabetes mellitus in the puerperium - baby delivered during previous episode of care
199229001	Pre-existing type 1 diabetes mellitus
199230006	Pre-existing type 2 diabetes mellitus
199231005	Pre-existing malnutrition-related diabetes mellitus
20052008	Fructose-1,6-bisphosphate aldolase B deficiency
20155007	Secondary orotic aciduria
20165001	Hyperphosphatemia
201663006	Gouty arthritis of the shoulder region
201666003	Gouty arthritis of the hand
201667007	Gouty arthritis of the pelvic region and thigh
201669005	Gouty arthritis of the ankle and/or foot
201670006	Gouty arthritis of multiple sites
20269002	Hypokalemia, extracellular fluid to intracellular fluid shifts
20313009	Hyperosmolality
203471008	Brown tumor of hyperparathyroidism
206481000	Perinatal endocrine and metabolic disorders
206489003	Transitory neonatal hypernatremia
206490007	Transitory neonatal hyponatremia
206491006	Transitory neonatal hyperkalemia
206492004	Transitory neonatal hypokalemia
206493009	Disturbances of sodium balance of newborn
206494003	Disturbances of potassium balance of newborn
206506005	Transitory metabolic disturbance in infant of pre-diabetic mother
20756002	Adult hypophosphatasia
20766005	Ehlers-Danlos syndrome, type 2
20825002	Ketotic hypoglycemia
20957000	Disorder of carbohydrate metabolism
20987006	McKittrick-Wheelock syndrome
21263006	Myxedema coma
212970002	Effects of thirst
212971003	Deprivation of water
213281004	Ketonemia
21367009	Autosomal dominant variant form of albumin
21412009	X chromosome-linked pyridoxine refractory sideroblastic anemia
21420006	Alkalosis
214290000	Acetonemia
21529005	beta-Aminoisobutyricaciduria
21535005	Dietary deficiency of selenium AND vitamin E
21584002	Syndrome of infant of diabetic mother
21630007	Glutathione S-transferase deficiency
216325001	Acquired hyperbilirubinemia
21639008	Hypervolemia
217341008	Xanthoma diabeticorum
21764004	Renal carnitine transport defect
2186007	Compensated metabolic alkalosis
21952001	Cystinuria, type 2
22011005	Hartnup disorder, renal type
22062008	X-linked glutaric aciduria, type 2
22169002	Intestinal disaccharidase deficiency
22350004	T>3< thyrotoxicosis
2241003	X-linked absence of thyroxine-binding globulin
2243000	Hypercalcemia due to hyperthyroidism
22450000	Hyperphosphaturia
22558005	Iodide transport defect
22684007	Methylcrotonic aciduria
22774003	Hypokalemic alkalosis
22830006	Juvenile nephropathic cystinosis
22886006	Glutaric aciduria, type 2
22910008	Impaired glucose tolerance in obese
22933009	Glucose-6-phosphate dehydrogenase deficiency class I variant anemia
22935002	Congenital erythropoietic porphyria
230352008	Encephalopathy due to vitamin deficiency
230358007	Hyponatremic encephalopathy
230359004	Secondary amyloid encephalopathy
230426003	Myoclonic epilepsy with ragged red fibers
23045005	Insulin dependent diabetes mellitus type IA
230677000	Congenital end-plate acetylcholinesterase deficiency
23156007	Mild maple syrup urine disease
23272008	Familial hypoceruloplasminemia
233720006	Pulmonary lipid storage disease
234176004	Idiopathic fluid retention
234177008	Excess interdialytic weight gain
234363001	Selective malabsorption of cyanocobalamin
234405009	Triose phosphate isomerase deficiency
234407001	Uridine monophosphate hydrolase deficiency
234422006	Acute intermittent porphyria
23447005	Guanosine triphosphate cyclohydrolase I deficiency
23501004	Arginase deficiency
23536000	Iodotyrosyl coupling defect
235667000	Late dumping syndrome
23569000	Glucoaminophosphaturia syndrome with rickets
23585005	Disorder of lysosomal enzyme
2359002	Hyper-beta-alaninemia
235903001	Metabolic and genetic disorder affecting the liver
235905008	Physiological hyperbilirubinemia
235906009	Hyperbilirubinemia - conjugated - type III
235908005	Glycogen storage disease type IX
235909002	Antichymotrypsin deficiency-alpha-1
235915002	Synthetic defect of bile acids
236444003	Microscopic nephrocalcinosis
236445002	Macroscopic nephrocalcinosis
236446001	Cortical nephrocalcinosis
236447005	Medullary nephrocalcinosis
236455003	Saturnine nephropathy
236460004	Familial proximal renal tubular acidosis
236461000	Distal renal tubular acidosis
236463002	Hyperkalemic renal tubular acidosis
236464008	Hyporeninemic hypoaldosteronism
236466005	Congenital Fanconi syndrome
236467001	Acquired Fanconi syndrome
236468006	Adult Fanconi syndrome
236475007	Dibasic aminoaciduria
236477004	Glycinuria
236495001	Urate nephropathy
236496000	Acute urate nephropathy
236532003	Renal tubular acidosis with progressive nerve deafness
236541008	Hyperchloremic acidosis associated with dialysis
236548002	Aluminum-related osteomalacia
236798003	Androgen resistance - infertile male
237055002	Polycystic ovary syndrome
237230004	Uremia in pregnancy without hypertension
237498007	Toxic goiter
237499004	Thyrotoxicosis due to Graves' disease
237501007	Thyrotoxicosis due to acute thyroiditis
237503005	Borderline thyrotoxicosis
237505003	Apathetic thyrotoxicosis
237506002	Thyrotoxicosis in pregnancy
237507006	Human chorionic gonadotrophin-induced thyrotoxicosis
237508001	Iatrogenic thyrotoxicosis
237509009	Thyrotoxicosis on thyroxine therapy
237512007	Thyrotoxicosis due to thyrotropin-secreting pituitary adenoma
237554005	Familial dyshormonogenetic goiter
237555006	Hypothyroidism due to iodide trapping defect
237556007	Hypothyroidism due to iodide organification defect
237559000	Thyroid hormone resistance syndrome
237560005	Generalized thyroid hormone resistance
237597000	Disorder of glucose regulation
237598005	Hyperglycemic disorder
237599002	Insulin treated type 2 diabetes mellitus
237600004	Malnutrition-related diabetes mellitus - fibrocalculous
237601000	Secondary endocrine diabetes mellitus
237602007	Metabolic syndrome X
237603002	Transitory neonatal diabetes mellitus
237604008	Maturity onset diabetes of the young, type 2
237612000	Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction
237613005	Hyperproinsulinemia
237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
237619009	Diabetes-deafness syndrome maternally transmitted
237620003	Abnormal metabolic state due to diabetes mellitus
237621004	Severe hyperglycemia due to diabetes mellitus
237622006	Poor glycemic control
237623001	Acute hyperglycemia
237624007	Metabolic stress hyperglycemia
237625008	Hyperglycemic disorder in pregnancy
237627000	Pregnancy and type 2 diabetes mellitus
237628005	Impaired glucose tolerance in pregnancy
237630007	Hypoglycemic disorder
237631006	Neuroglycopenia
237632004	Hypoglycemic event due to diabetes
237633009	Hypoglycemia due to diabetes mellitus
237635002	Nocturnal hypoglycemia due to diabetes mellitus
237636001	Recurrent severe hypoglycemia
237637005	Non-diabetic hypoglycemia
237638000	Post-prandial hypoglycemia
237639008	Alimentary hypoglycemia
237640005	Drug-induced hypoglycemia
237641009	Alcohol-induced hypoglycemia
237642002	Ectopic insulin-like growth factor hypoglycemia
237643007	Ectopic insulin-like growth factor-1 hypoglycemia
237644001	Ectopic insulin-like growth factor-2 hypoglycemia
237645000	Tumor-induced hypoglycemia
237646004	Drug-induced hyperinsulinemia
237647008	Alimentary hyperinsulinemia
237651005	Insulin resistance - type A
237652003	Insulin resistance - type B
237658004	Pseudohypoparathyroidism and pseudopseudohypoparathyroidism
237659007	Pseudopseudohypoparathyroidism
237696003	Familial central diabetes insipidus
237725002	Defective osmoregulation
237726001	Osmoregulation defect - absent thirst
237727005	Osmoregulation defect - excess thirst
237728000	Absent osmoregulation
237729008	Reset hypothalamic osmostat
237749004	Virilization-adrenogenital syndrome
237750004	Pseudohermaphrodite, female with adrenocortical disorder
237755009	Congenital adrenal hyperplasia - desmolase deficiency
237769009	Disorder of cortisol-cortisone shuttle
237770005	Syndrome of apparent mineralocorticoid excess
237771009	Corticosteroid 11-reductase deficiency
237793004	Hyperandrogenization syndrome
237806007	Androgen receptor absent
237807003	Undervirilization
237824009	Juvenile Graves' disease
237840007	Disorder of electrolytes
237841006	Hyperosmolality with hypernatremia
237842004	Hyponatremia with decreased serum osmolality
237843009	Pseudohyponatremia
237844003	Drug-induced hyponatremia
237846001	Hyperkalemic alkalosis
237847005	Hyperkalemic acidosis
237848000	Hyperkalemia with normal acid-base balance
237849008	Drug-induced hyperkalemia
237851007	Hypokalemic acidosis
237852000	Hypokalemia with normal acid-base balance
237853005	Drug-induced hypokalemia
237854004	Increased anion gap
237855003	Reduced anion gap
237856002	Reversed anion gap
237858001	Mixed acid-base balance disorders - not compensated primary disorder
237859009	Metabolic acidosis and metabolic alkalosis
237860004	Respiratory alkalosis and metabolic acidosis
237861000	Respiratory alkalosis and metabolic alkalosis
237862007	Respiratory acidosis and metabolic acidosis
237863002	Respiratory acidosis and metabolic alkalosis
237879001	Disorder of phosphate, calcium and vitamin D metabolism
237880003	Secondary hypercalcemia
237883001	Hungry bone syndrome
237884007	Drug-induced hypocalcemia
237885008	Familial hypocalciuric hypercalcemia
237886009	Familial idiopathic hypercalciuria
237888005	Hypophosphatemic rickets with nephrotic-glycosuric dwarfism
237889002	Autosomal dominant hypophosphatemic rickets
237890006	Autosomal dominant hypophosphatemic bone disease
237891005	Autosomal recessive hypophosphatemic bone disease
237894002	Vitamin D-dependent rickets type II with alopecia
237895001	Vitamin D-dependent rickets type II without alopecia
237902005	Acquired hypophosphatemia
237903000	Nutritional hypophosphatemia
237904006	Renal failure-associated hyperphosphatemia
237905007	Iatrogenic hyperphosphatemia
237907004	Secondary hypomagnesemia
237908009	Drug-induced hypomagnesemia
237909001	Disorder of osmoregulation
237910006	Osmotic disturbance
237911005	Disorder of amino acid and organic acid metabolism
237913008	Disorder of tetrahydrobiopterin metabolism
237914002	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
237919007	Minimal pigment oculocutaneous albinism
237920001	Temperature-sensitive oculocutaneous albinism
237921002	Disorder of catecholamine synthesis
237922009	Aromatic amino acid decarboxylase deficiency
237923004	Dopamine beta-hydroxylase deficiency
237925006	Tryptophanemia
237926007	Glutathione synthase deficiency without 5-oxoprolinuria
237928008	Disorder of ornithine metabolism
237929000	Disorder of lysine and hydroxylysine metabolism
237931009	2-Ketoadipic acidemia
237933007	Transcobalamin I deficiency
237934001	Transcobalamin II deficiency
237937008	Deficiency of Cobalamin E
237938003	Deficiency of Cobalamin G
237939006	Non-ketotic hyperglycinemia
237940008	Disorder of beta and omega amino acid metabolism
237941007	Gamma-aminobutyric acid transaminase deficiency
237944004	Valinosis
237945003	Complete deficiency of methylmalonyl-coenzyme A mutase
237946002	Partial deficiency of methylmalonyl-coenzyme A mutase
237950009	3-Methylglutaconic aciduria
237951008	3-Methylglutaconic aciduria type 1
237952001	3-Methylglutaconic aciduria with normal 3-methylglutaconyl-coenzyme A hydratase activity
237953006	Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated
237954000	Mitochondrial 2-methylacetoacetyl-coenzyme A thiolase deficiency - non-potassium stimulated
237955004	Cytosolic acetoacetyl-coenzyme A thiolase deficiency
237957007	3-Hydroxyisobutyric aciduria
237959005	Trimethylaminuria
237960000	D-2-hydroxyglutaric aciduria
237961001	L-2-hydroxyglutaric aciduria
237963003	Disorder of galactose metabolism
237964009	Glycogen synthase deficiency
237965005	Phosphate transport defect
237966006	Glucose transport defect
237972006	Disorder of carbohydrate absorption
237975008	Lactase deficiency
237977000	Disorder of glycerol metabolism
237978005	Glycerol intolerance syndrome
237979002	Disorder of glycerate metabolism
237980004	D-Glyceric aciduria
237981000	Disorder of pyruvate metabolism and mitochondrial respiratory chain
237982007	Lactate dehydrogenase deficiency
237983002	Fumarase deficiency
237984008	Neurogenic muscle weakness, ataxia and retinitis pigmentosa
237985009	Pearson's syndrome
237986005	Disorder of mitochondrial respiratory chain complexes
237987001	Deficiency in enzyme complexes of mitochondrial respiratory chain
237988006	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
237989003	Succinate-coenzyme Q reductase deficiency
237990007	Ubiquinone dehydrogenase deficiency
237993009	Combined complex deficiencies
237994003	Deletion and duplication of mitochondrial deoxyribonucleic acid
237995002	Depletion of mitochondrial deoxyribonucleic acid
237996001	Long chain acyl-coenzyme A dehydrogenase deficiency
237997005	Very long chain acyl-coenzyme A dehydrogenase deficiency
237998000	Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
237999008	Mitochondrial trifunctional protein deficiency
238000002	Combined deficiency of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and enoyl-coenzyme A hydratase
23800005	Hypokalemia, inadequate intake
238001003	Carnitine palmitoyltransferase I deficiency
238002005	Carnitine palmitoyltransferase II deficiency
238003000	Carnitine acylcarnitine translocase deficiency
238004006	Succinyl-coenzyme A acetoacetate transferase deficiency
238006008	Disorder of purine and pyrimidine metabolism
238007004	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
238009001	Adenine phosphoribosyl transferase deficiency type I
238010006	Adenine phosphoribosyl transferase deficiency type II
238011005	Inosine triphosphate pyrophosphohydrolase deficiency
238013008	Cytosine diphosphate choline phosphotransferase deficiency
238014002	Dihydropyrimidinase deficiency
238017009	Disorder of lipid storage and metabolism
238018004	Total hexosaminidase deficiency - infantile
238019007	Total hexosaminidase deficiency - juvenile
238020001	Total hexosaminidase deficiency - adult
238021002	B variant hexosaminidase A deficiency - infantile
238022009	B variant hexosaminidase A deficiency - juvenile
238023004	B variant hexosaminidase A deficiency - adult
238024005	B1 variant hexosaminidase A deficiency
238025006	GM1 gangliosidosis
238026007	Infantile GM1 gangliosidosis
238027003	Adult GM1 gangliosidosis
238028008	Sphingolipidosis
238030005	Galactocerebroside beta-galactosidase deficiency - early onset
238031009	Arylsulfatase A deficiency
238032002	Disorder of cholesterol catabolism
238033007	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
238035000	Delta-4-3-oxosteroid-5-beta-reductase deficiency
238036004	Disorder of cholesterol synthesis
238037008	Disorder of lipoprotein storage and metabolism
238038003	Familial hyperlipoproteinemia
238040008	Familial combined hyperlipidemia
238041007	Familial hypolipoproteinemia
238043005	Disorder of glycosaminoglycan metabolism
238044004	Mucopolysaccharidosis type IVB
238045003	Disorder of glycoprotein metabolism
238047006	Beta-D-mannosidosis
238048001	Alpha-N-acetylgalactosaminidase deficiency
238049009	Carbohydrate-deficient glycoprotein syndrome
238050009	Disorder of sialic acid metabolism
238051008	Sialuria
238053006	Homozygous erythropoietic protoporphyria
238054000	Homozygous acute intermittent porphyria
238056003	Homozygous hereditary coproporphyria
238057007	Homozygous variegate porphyria
238059005	Disorder of peroxisomal function
238060000	General loss of peroxisomal function
238061001	Neonatal adrenoleucodystrophy
238062008	Infantile Refsum's disease
238063003	Loss of multiple peroxisomal functions
238064009	Zellweger's-like syndrome
238065005	Pseudoinfantile Refsum's disease
238066006	Loss of single peroxisomal function
238067002	Peroxisomal thiolase deficiency
238068007	Bifunctional peroxisomal enzyme deficiency
238069004	Acyl-coenzyme A oxidase deficiency
238070003	Glutaryl-coenzyme A oxidase deficiency
238071004	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia
238072006	Isolated dihydroxyacetone phosphate acyltransferase deficiency
238073001	Isolated alkyldihydroxyacetone phosphate synthase deficiency
238074007	Xanthomatosis, familial
238076009	Primary hypercholesterolemia
238077000	Polygenic hypercholesterolemia
238078005	Familial hypercholesterolemia - homozygous
238079002	Familial hypercholesterolemia - heterozygous
238080004	Hyperalphalipoproteinemia
238081000	Familial defective apolipoprotein B-100
238082007	Secondary hypercholesterolemia
238083002	Primary hypertriglyceridemia
238084008	Very low density lipoprotinemia
238085009	Fredrickson type IV hyperlipoproteinemia
238087001	Secondary hypertriglyceridemia
238088006	Primary combined hyperlipidemia
238089003	Secondary combined hyperlipidemia
238090007	Hypolipidemia
238091006	Lecithin cholesterol acyltransferase deficiency
238092004	Fish-eye disease
238093009	Familial hypobetalipoproteinemia - homozygous form
238094003	Familial hypobetalipoproteinemia - heterozygous form
238095002	Apolipoprotein A-I deficiency
238096001	Apolipoprotein A-I variant disorder
238097005	Apo A-I Milano variant
238098000	Apo A-I Marburg variant
238099008	ApoA-I Munster variant 1
238100000	ApoA-I Munster variant 2
238101001	ApoA-I Munster variant 3
238102008	Apo A-I Giessen variant
238103003	Apo A-I variant fisheye-like syndrome
238104009	Sitosterolemia
238112001	Carnitine nutritional deficiency
238115004	Sodium deficiency
238157005	Disorder of blood gas
238158000	Hyperoxia
238159008	Desaturation of blood
238160003	Disorder of oxygen transport
238161004	Impaired oxygen delivery
238162006	Impaired oxygen extraction
238163001	Increased oxygen demand
23849003	Sandhoff disease
23860007	Xylosuria
238821003	Idiopathic mid-dermal elastolysis
238822005	Noninflammatory dermal elastolysis
238870004	Hutchinson-Gilford syndrome
238871000	Metageria
238872007	Acrogeria
238874008	Neonatal pseudo-hydrocephalic progeroid syndrome
238875009	Wrinkly skin syndrome
238951005	Xanthelasma
238952003	Eruptive xanthoma
238953008	Plane xanthoma
238954002	Tuberous xanthoma
238955001	Generalized plane xanthoma
239000007	Drug-induced pseudoporphyria
239026002	Hypohidrosis-diabetes insipidus syndrome
239087008	Cantu's syndrome
239837000	Pyrophosphate tophus
239843003	Secondary gout
239844009	Gout secondary to renal impairment
239845005	Gout caused by drug
239846006	Gout caused by lead
239847002	Gout secondary to enzyme defect
239848007	Gouty bursitis
239852007	Cholesterol tophus
240042004	Tophus
240095001	Lipid storage myopathy
240096000	Mitochondrial cytopathy
24013007	Hyperleucinemia
240165007	Osteomalacia caused by drug
240167004	Osteomalacia secondary to pregnancy
240168009	Skeletal fluorosis
240306004	Fetal acidosis
240307008	Late neonatal hypocalcemia
24052000	Hypercalcemia due to immobilization
24203005	Extreme insulin resistance with acanthosis nigricans, hirsutism AND abnormal insulin receptors
24308003	Cystathionine beta-synthase deficiency
24326000	Metachromatic leukodystrophy, adult type
24338009	Fructosuria
24529006	Potassium disorder
24595009	Primary gout
24661004	Glucose-6-phosphate dehydrogenase deficiency class III variant anemia
24754009	Isolated familial intestinal hypomagnesemia
24790002	Proximal renal tubular acidosis
25010000	Benign adult cystinosis
25067009	Autosomal variant form of transthyretin
25362006	Phytanic acid storage disease
2538008	Ketosis
25404008	Illegal abortion with electrolyte imbalance
254069004	Dysostosis multiplex
254116003	Geroderma osteodysplastica
254122007	Osteopetrosis with renal tubular acidosis
254220005	Inherited cutis laxa
254221009	Neonatal cutis laxa with marfanoid phenotype
254222002	Cutis laxa, recessive, type I
254223007	Cutis laxa, recessive, type II
25425008	Autosomal recessive glutaric aciduria, type 2
25443007	X chromosome-linked pyridoxine responsive sideroblastic anemia
25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient
25646005	Isolated cystinuria
256571000119105	Hypokalemic alkalosis due to diarrhea
25739007	Hyperhydroxyprolinemia
25765006	Neonatal iminoglycinuria
25792000	Kearns-Sayre syndrome
25966003	Metabolic acidosis caused by methanol
25998009	Metabolic acidosis, increased anion gap
26015003	Maroteaux-Lamy syndrome, intermediate form
26132002	5-Oxoprolinase deficiency
26151008	Graves' disease with acropachy AND with thyrotoxic crisis
26206000	Hepatic coma due to viral hepatitis B
26254008	Potential abnormality of glucose tolerance
26298008	Ketoacidotic coma due to diabetes mellitus
26336006	Tyrosinase-positive oculocutaneous albinism
2638001	Hypercalcemia caused by a drug
26389007	Toxic multinodular goiter
26399002	Ocular albinism
26436007	Disorder of acid-base balance
26513001	Non-amino organic acidemia AND/OR aciduria
265569002	Aland eye disease and ocular albinism
267374005	Toxic diffuse goiter
267424007	Generalized glycogenosis
267426009	Malabsorption of glucose
267427000	Disaccharidase deficiency
267431006	Disorder of lipid metabolism
267432004	Pure hypercholesterolemia
267433009	Pure hyperglyceridemia
267434003	Mixed hyperlipidemia
267435002	Familial hyperchylomicronemia
267436001	Lipoprotein deficiency disorder
267446004	Hyperosmolality and or hypernatremia
267447008	Hypo-osmolality and or hyponatremia
26745009	Mucopolysaccharidosis type I-H/S
267454002	Acatalasemia
268846006	Neonatal hypocalcemia
271077003	Adrenal virilism
271327008	Hypoglycemic syndrome
271847005	Hereditary hypertyrosinemia
272064009	Deficiency of amylopectin 6-glucanohydrolase
2725003	Previous abnormality of glucose tolerance
27277001	Tophus of heart co-occurrent and due to gout
272938000	Deficiency of limit dextrinase
273700000	Hyper-beta-carnosinemia
27373000	Fumarylacetoacetase deficiency, acute type
274864009	Glycogen storage disease, type II
27503000	Gilbert's syndrome
2751001	Fibrocalculous pancreatic diabetes
275404008	Celiac rickets
275598004	Familial lipoprotein lipase deficiency
275850001	Hyposmolality syndrome
276232006	Ischemic reperfusion injury
276261007	Pterin-4-carbinolamine dehydratase deficiency
276262000	Uroporphyrinogen decarboxylase deficiency
276263005	Porphobilinogen deaminase deficiency
276265003	Ferrochelatase deficiency
27642008	Dysmorphic sialidosis, congenital form
276426004	Ornithine oxo-acid aminotransferase deficiency
276549000	Newborn physiological jaundice
276550000	Prolonged newborn physiological jaundice
276555005	Perinatal disorders of glucose regulation
276557002	Neonatal hyperglycemia
276558007	Transient neonatal hyperglycemia
276559004	Iatrogenic neonatal hyperglycemia
276560009	Diabetes mellitus in neonate small for gestational age
276561008	Transitory neonatal hypoglycemia
276562001	Iatrogenic neonatal hypoglycemia
276563006	Idiopathic transient neonatal hyperinsulinemia
276564000	Perinatal thyroid disorder
276567007	Antepartum fetal acidosis
276568002	Intrapartum fetal acidosis
276569005	Perinatal disorder of electrolytes
276584001	Neonatal nephrocalcinosis
276586004	Transient neonatal renal tubular acidosis
276627004	Congenital uremia
276629001	Transient hypothyroxinemia
276633008	Hypotonic disorder
276634002	Idiopathic hyperphosphatasemia
276644000	Neonatal overhydration
276645004	Infantile hypercalcemia
276646003	Idiopathic infantile hypercalcemia - mild form
276687002	Conjugated hyperbilirubinemia in infancy
276702002	Neonatal rickets
27718001	Maple syrup urine disease
277365009	Transurethral syndrome
277481003	Idiopathic infantile hypercalcemia - severe form
277547006	Hyposmolality
277605001	Tumor lysis syndrome
277893002	Carbohydrate-deficient glycoprotein syndrome type I
277894008	Carbohydrate-deficient glycoprotein syndrome type II
277895009	Carbohydrate-deficient glycoprotein syndrome type III
278932006	Biochemical rickets
278991002	Sialic storage disease
279081001	Dysostosis multiplex group
27943000	Congenital glucose-galactose malabsorption
28032008	Insulin dependent diabetes mellitus type IB
28093001	Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
281362006	Tophus of bursa co-occurrent and due to gout
281363001	Tophus of tendon co-occurrent and due to gout
281364007	Tophus of olecranon bursa co-occurrent and due to gout
281365008	Tophus of prepatellar bursa co-occurrent and due to gout
281610001	Neonatal hyperbilirubinemia
281611002	Neonatal unconjugated hyperbilirubinemia
281612009	Neonatal conjugated hyperbilirubinemia
28183005	Fructose-biphosphatase deficiency
28193003	Hepatic osteodystrophy
28196006	Uremia following molar AND/OR ectopic pregnancy
28212002	Intestinal lipofuscinosis
28259009	Crigler-Najjar syndrome
283839008	Intercritical gout
28428009	Visceral gout
28575006	Transient hyperphenylalaninemia
286909009	Thyrotoxicosis with or without goiter
286920009	Amino acid/carbohydrate metabolic disorder
286923006	Iron, copper, magnesium metabolism disorder
286924000	Phosphorus and calcium disorders
28710006	Disorder of steroid metabolism
287266002	Muscle D-lactate dehydrogenase deficiency
288581000119102	Sleep related hypoxemia
28882002	Disorder of sulfur-bearing amino acid metabolism
28987007	Glutaric aciduria
29028009	Thyrotoxic crisis
29094004	Disorder of porphyrin metabolism
29291001	Glycogen storage disease, type VI
29512005	Lactase deficiency in diseases other than of the small intestine
29596007	Hypercapnia
29633007	Glycogen storage disease
29692004	Combined molybdoflavoprotein enzyme deficiency
297225000	Maternal phenylketonuria
297226004	Disorder of creatine synthesis
297231002	3-Methylglutaconic aciduria type 2
297232009	3-Methylglutaconic aciduria type 3
297233004	3-Methylglutaconic aciduria type 4
297235006	Unclassified 3-methylglutaconic aciduria
297237003	Generalized uridine diphosphate galactose-4-epimerase deficiency
297238008	Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
297251003	Glycogen phosphorylase kinase deficiency, X-linked
297252005	Glycogen phosphorylase kinase deficiency, autosomal recessive
297253000	Cardiac glycogen phosphorylase kinase deficiency
297254006	Hepatic and muscle glycogen phosphorylase kinase deficiency
297255007	Hepatic glycogen phosphorylase kinase deficiency
297256008	Glycerol kinase deficiency - isolated
297257004	Glycerol kinase deficiency - contiguous gene syndrome
297278001	Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
297288000	Liver calculus
29736007	Syndrome of carbohydrate intolerance
298941000119101	Gout of shoulder due to renal impairment
298951000119104	Gout of vertebra due to renal impairment
298961000119102	Gout of wrist due to renal impairment
29914000	Dihydrolipoamide dehydrogenase deficiency
299465007	Familial multiple lipoprotein-type hyperlipidemia
30101004	Neonatal cystine-lysinuria
30102006	Glucose-6-phosphate transport defect
30174008	Childhood hypophosphatasia
30188007	Alpha-1-antitrypsin deficiency
302250008	Deficiency of amylase
302661005	Deficiency of glycosidase
302736004	Deficiency of protease
302866003	Hypoglycemia
302870006	Hypertriglyceridemia
30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
303092001	Non-ketotic hyperglycinemia H protein deficiency
303093006	Non-ketotic hyperglycinemia L protein deficiency
303094000	Propionyl-coenzyme A carboxylase deficiency pccA complementation group
303095004	Propionyl-coenzyme A carboxylase deficiency pccBC complementation group
303096003	Deficiency of endopeptidase
303097007	Disorder of serine metabolism
303098002	3-Phosphoglycerate dehydrogenase deficiency
303852004	Lysinuric protein intolerance
303881000119102	Chronic tophaceous gout of ankle due to renal impairment
303891000119104	Chronic gout of ankle without tophus due to renal impairment
30390004	Generalized metabolic disorder
303901000119100	Chronic tophaceous gout of elbow due to renal impairment
303911000119102	Chronic gout of elbow without tophus due to renal impairment
303921000119109	Chronic tophaceous gout of hand due to renal impairment
303931000119107	Chronic gout of hand without tophus due to renal impairment
303941000119103	Chronic tophaceous gout of hip due to renal impairment
303951000119101	Chronic gout of hip without tophus due to renal impairment
303961000119104	Chronic tophaceous gout of knee due to renal impairment
303971000119105	Chronic gout of knee without tophus due to renal impairment
304121000119108	Chronic tophaceous gout of multiple sites due to renal impairment
304131000119106	Chronic gout of multiple sites without tophus due to renal impairment
304281000119100	Chronic tophaceous gout of shoulder due to renal impairment
304291000119102	Chronic gout of shoulder without tophus due to renal impairment
304301000119101	Chronic tophaceous gout of vertebra due to renal impairment
304311000119103	Chronic gout of vertebra without tophus due to renal impairment
304321000119105	Chronic tophaceous gout due to renal impairment
304331000119108	Chronic gout without tophus due to renal impairment
304341000119104	Chronic tophaceous gout of wrist due to renal impairment
304351000119102	Chronic gout of wrist without tophus due to renal impairment
30529005	Citrullinemia, neonatal type
306131000119100	Chronic tophaceous gout of ankle and/or foot caused by drug
306141000119109	Chronic gout of ankle and/or foot without tophus caused by drug
306151000119106	Chronic tophaceous gout of elbow caused by drug
306161000119108	Chronic gout of elbow without tophus caused by drug
306171000119102	Chronic tophaceous gout of hand caused by drug
306181000119104	Chronic gout of hand without tophus caused by drug
306191000119101	Chronic tophaceous gout of hip caused by drug
306201000119103	Chronic gout of hip without tophus caused by drug
306211000119100	Chronic tophaceous gout of knee caused by drug
306221000119107	Chronic gout of knee without tophus caused by drug
306371000119100	Chronic tophaceous gout of multiple sites caused by drug
306381000119102	Chronic gout of multiple sites without tophus caused by drug
30652003	Ehlers-Danlos syndrome, type 3
306531000119108	Chronic tophaceous gout of shoulder caused by drug
306541000119104	Chronic gout of shoulder without tophus caused by drug
306551000119102	Chronic tophaceous gout of vertebra caused by drug
306561000119100	Chronic gout of vertebra without tophus caused by drug
306571000119106	Chronic tophaceous gout caused by drug
306581000119109	Chronic gout without tophus caused by drug
306591000119107	Chronic tophaceous gout of wrist caused by drug
306601000119100	Chronic gout of wrist without tophus caused by drug
306611000119102	Gout of ankle and/or foot caused by drug
306621000119109	Gout of elbow caused by drug
306631000119107	Gout of hand caused by drug
306641000119103	Gout of hip caused by drug
306651000119101	Gout of knee caused by drug
306731000119104	Gout of multiple sites caused by drug
306811000119101	Gout of shoulder caused by drug
306821000119108	Gout of vertebra caused by drug
306831000119106	Gout of wrist caused by drug
307127004	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
307128009	Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency
307130006	3-Ketoacyl-coenzyme A triolase deficiency
307201006	Dilutional hyponatremia
308791000119101	Gout of elbow due to renal impairment
308801000119100	Gout of hand due to renal impairment
308811000119102	Gout of hip due to renal impairment
308821000119109	Gout of knee due to renal impairment
308901000119105	Gout of multiple sites due to renal impairment
30913008	Disorder of iron metabolism
309661000119108	Primary chronic gout without tophus of ankle and/or foot
30967002	Thyrotoxic periodic paralysis
309681000119104	Primary chronic gout without tophus of elbow
309701000119101	Primary chronic gout without tophus of hand
309721000119105	Primary chronic gout without tophus of hip
309741000119104	Primary chronic gout without tophus of knee
30985009	Toxic nodular goiter with thyrotoxic storm
309901000119103	Primary chronic gout without tophus of multiple sites
310061000119109	Primary chronic gout without tophus of shoulder
310081000119100	Primary chronic gout without tophus of vertebra
310101000119107	Primary chronic gout without tophus
310121000119103	Primary chronic gout without tophus of wrist
310181000119104	Gouty arthritis of left ankle
310191000119101	Arthritis of left elbow due to gout
310201000119103	Gouty arthritis of left hand
310221000119107	Gouty arthritis of left knee
310241000119101	Arthritis of left wrist due to gout
310261000119102	Gouty arthritis of right ankle
310271000119108	Arthritis of right elbow due to gout
310281000119106	Gouty arthritis of right hand
310301000119105	Gouty arthritis of right knee
310321000119101	Arthritis of right wrist due to gout
310505005	Hyperosmolar non-ketotic state due to diabetes mellitus
31220004	Cobalamin D disease
312857009	Alpha-2-antitrypsin deficiency
31321000119102	Diabetes mellitus type 1 without retinopathy
313435000	Type I diabetes mellitus without complication
313436004	Type II diabetes mellitus without complication
31368008	Thiamin-responsive maple syrup urine disease
3140001	Citrullinemia, subacute type
314467007	Gyrate atrophy
315057000	Gastric xanthelasma
317006	Reactive hypoglycemia
31798004	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
32123005	Hooft's syndrome
32284009	Impaired glucose tolerance in nonobese
32394002	Acquired benign adrenal androgenic overactivity
32442003	Volume excess, primary hormone excess
32612005	Disorder of purine metabolism
32891000	Rotor syndrome
33116002	Hydroxykynureninuria
331331000119101	Xanthoma of right eyelid
331481000119108	Xanthoma of right upper eyelid
33316007	GM 2 gangliosidosis
334051000119107	Xanthoma of right lower eyelid
33513003	Familial apolipoprotein C-II deficiency
33559001	Pineal hyperplasia AND diabetes mellitus syndrome
335621000000101	Maternally inherited diabetes mellitus
33669002	Pregestational diabetes mellitus AND/OR impaired glucose tolerance, modified White class D
336941000119100	Xanthoma of left eyelid
337091000119107	Xanthoma of left upper eyelid
33763006	Hypercalcemic nephropathy
339651000119100	Xanthoma of left lower eyelid
33982008	Hyperphosphatasemia with intellectual disability
33985005	Hyperornithinemia
340519003	Lysine intolerance
34095006	Dehydration
341536001	Periodic hyperlysinemia
34225008	Idiopathic hypercalcemia of infancy
342553006	Periodic hyperlysinemia with hyperammonemia
3427001	Nonglucosuric melituria
34349009	Familial type 5 hyperlipoproteinemia
343570008	Latent hemochromatosis
34420000	Storage disease
344587002	Precirrhotic hemochromatosis
34528009	Familial hypertriglyceridemia
34530006	Failed attempted abortion with electrolyte imbalance
34566007	Sialic acid storage disease, severe infantile type
34818008	Pregestational diabetes mellitus AND/OR impaired glucose tolerance, modified White class B
34852006	Glucose-6-phosphate dehydrogenase deficiency class II variant anemia
35019008	Disorder of cobalt metabolism
35145002	Uremic encephalopathy
35208003	Metabolic disorder following molar AND/OR ectopic pregnancy
353295004	Graves' disease
35400008	Hereditary hemochromatosis
35528000	Metabolic acidosis caused by salicylate
35633007	Transfusion reaction due to excess volume
35691006	Combined deficiency of sialidase AND beta galactosidase
35759001	Ribose-phosphate pyrophosphokinase overactivity
35885006	Hyperuricemia
3591006	Metabolic acidosis, normal anion gap, bicarbonate losses
35912001	Aminoaciduria
359642000	Diabetes mellitus type 2 in nonobese
360339005	Persistent hyperinsulinemic hypoglycemia of infancy
360348000	Pituitary thyroid hormone resistance
360353005	Thyrotoxicosis due to pituitary thyroid hormone resistance
360358001	Thyrotoxicosis due to overproduction of thyroid stimulating hormone
360361000	Thyrotoxicosis due to inappropriate thyroid stimulating hormone secretion
360369003	Holocarboxylase synthase deficiency
360373000	Homocystinuria vitamin B12-responsive type III
360376008	Functional defects of methionine synthase
360378009	Homogentisate 1,2-dioxygenase deficiency
360410009	Hepatic tyrosine aminotransferase deficiency
360416003	Glutaryl-coenzyme A dehydrogenase deficiency
360546002	Hypoglycemic shock
360579002	Deficiency of choline esterase I
360586005	Deficiency of acetylcholinesterase
360597005	Deficiency of benzoylcholinesterase
360619001	Deficiency of butyrylcholinesterase
360631004	Deficiency of choline esterase II (unspecific)
360642008	Deficiency of pectin methylesterase
360653002	Deficiency of pectinesterase
360664004	Deficiency of pectin methoxylase
360675000	Deficiency of lactonase
360686003	Deficiency of aldonolactonase
360697003	Deficiency of gluconolactonase
360709003	Deficiency of acetyl-coenzyme A deacylase
360721004	Deficiency of acetyl-coenzyme A acylase
360733009	Deficiency of acetyl-CoA hydrolase
360745000	Deficiency of long-chain fatty-acyl-coenzyme A hydrolase
360757009	Deficiency of palmitoyl-coenzyme A hydrolase
360763000	Deficiency of phosphomonoesterase
360771001	Deficiency of glycerophosphatase
360781002	Deficiency of alkaline phosphomonoesterase
360792001	Deficiency of alkaline phosphatase
360800009	Deficiency of lipophosphodiesterase II
360804000	Deficiency of lecithinase D
360812008	Deficiency of phospholipase D
360822002	Deficiency of sulfatase
360834005	Deficiency of arylsulfatase
360854006	Deficiency of isomaltase
360866000	Deficiency of inosinase
360878001	Deficiency of inosine nucleosidase
360887005	Deficiency of nicotinamide adenine dinucleotide ^+^ nucleosidase
360892007	Deficiency of nicotinamide adenine dinucleotidase
360902000	Deficiency of leucine aminopeptidase
360910004	Deficiency of cytosol aminopeptidase
360921008	Deficiency of peptidase a
360932008	Deficiency of aminopeptidase
360943000	Deficiency of carnosinase
360953004	Deficiency of aminoacyl-histidine dipeptidase
360959000	Deficiency of prolinase
360969006	Deficiency of imidodipeptidase
360979008	Deficiency of L-prolylglycine dipeptidase
360987009	Deficiency of prolyl dipeptidase
360994007	Deficiency of prolidase
361001004	Deficiency of iminodipeptidase
361010007	Deficiency of proline dipeptidase
361017005	Deficiency of cathepsin C
361043006	Deficiency of chymotrypsin A and B
361051009	Deficiency of chymotrypsin
361058003	Deficiency of alpha- and beta-trypsin
361066007	Deficiency of trypsin
361075009	Deficiency of ribosomal neutral proteinase
361082008	Deficiency of ribosomal cathepsin
361086006	Deficiency of A-ase
361087002	Deficiency of L-asparagine amidohydrolase
361088007	Deficiency of halogenase
361089004	Deficiency of alkylhalidase
361090008	Deficiency of phosphatase
361091007	Deficiency of phosphoric monoester hydrolase
361092000	Deficiency of sulfuric ester hydrolase
361093005	Deficiency of amine oxidase
361094004	Deficiency of tyraminase
361129004	Hypercalcemia caused by lithium
361203007	Malonic aciduria
363041004	Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism
363090004	Disorder of protein metabolism
363140000	Hypolipoproteinemia
363204006	Metabolic disorder of fetus
3634007	Legal abortion complicated by metabolic disorder
3642008	Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2)
36444000	Disorder of the urea cycle metabolism
366951000119109	Adolescent X-linked adrenoleukodystrophy
366961000119106	Albinism co-occurrent with hematologic disorder
367041000119108	Childhood cerebral X-linked adrenoleukodystrophy
367241000119104	Hyperosmolar coma due to drug induced diabetes mellitus
367261000119100	Hyperosmolarity due to drug induced diabetes mellitus
367368009	Sulfite oxidase deficiency
367406009	Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase
367481000119108	Extrarenal uremia
367621000119107	Hyperoxaluria
367681000119106	Disorder of ketone metabolism
36799008	Glutamate-cysteine ligase deficiency
367991000119101	Hyperglycemia due to type 1 diabetes mellitus
368051000119109	Hyperglycemia due to type 2 diabetes mellitus
368521000119107	Disorder of nerve co-occurrent and due to type 1 diabetes mellitus
368551000119104	Dyslipidemia due to type 1 diabetes mellitus
368561000119102	Hyperosmolarity due to type 1 diabetes mellitus
368601000119102	Hyperosmolar coma due to secondary diabetes mellitus
368851000119102	Complete androgen insensitivity syndrome
36891003	Hartnup disorder, renal/jejunal type
368961000119107	Partial nephrogenic diabetes insipidus
36985004	Inherited disorder of thyroid metabolism
370491005	Metabolic acidosis due to grain overload
370493008	Renal medullary washout
370992007	Dyslipidemia
371019009	Azotemia due to intrarenal disease
371067004	Hepatopulmonary syndrome
371117009	Postoperative jaundice
37121000	Hypercalcemia caused by thiazide AND vitamin A
371316005	Deficiency of acetylesterase
371628009	Porphyrinopathy
37183000	Cystinuria, type 1
37200009	Disorder of tyrosine metabolism
37295009	Hyperestrogenism
373607009	Oxalosis
3744001	Hyperlipoproteinemia
37497004	Enteric hyperoxaluria
37548006	Hypopigmentation-immunodeficiency disease
37666005	Glycogen storage disease type X
37695001	Neonatal hypermethioninemia
37702000	Hereditary acrodermatitis enteropathica
37703005	Ectopic hyperinsulinism
37800003	Disorder of proline AND/OR hydroxyproline metabolism
378007	Morquio syndrome
37814003	Postpancreatectomy hyperglycemia
37934003	Mitochondrial-lipid-glycogen storage myopathy
37982009	Hyperdicarboxylicaminoaciduria AND hyperprolinemia
38032004	Nonpersistence of intestinal lactase
38063000	Pregestational diabetes mellitus AND/OR impaired glucose tolerance, modified White class C
38495009	Hypokalemia, excessive renal losses
385041000000108	Diabetes mellitus with multiple complications
385051000000106	Pre-existing diabetes mellitus
387814004	Deficiency of protein kinase
387815003	Deficiency of glycogen synthase a kinase
387816002	Deficiency of hydroxyalkyl-protein kinase
387817006	Deficiency of phosphorylase b kinase
38795005	Sialidosis
389087006	Hypoxemia
39011001	Hemosiderosis
390951007	Impaired fasting glycemia
39112005	Glutathione synthase deficiency with 5-oxoprolinuria
39239006	Legal abortion with electrolyte imbalance
392559009	Tumor-induced osteomalacia
39390005	Niemann-Pick disease, type B
3944006	Placental sulfatase deficiency (X-linked steryl-sulfatase deficiency) in a female
39452003	Fructose metabolism disorder
395204000	Hyperosmolar non-ketotic state due to type 2 diabetes mellitus
396338004	Metachromatic leucodystrophy
39784009	Secondary hemosiderosis
397915002	Fredrickson type IIa hyperlipoproteinemia
398036000	Familial hypercholesterolemia
398114001	Ehlers-Danlos syndrome
398123003	Dawn phenomenon
398140007	Post hypoglycemic hyperglycemia due to diabetes mellitus
398664009	Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase
398680004	Citrullinemia
398796005	Familial type 3 hyperlipoproteinemia
399045007	Juvenile fucosidosis
399053004	Idiopathic hemochromatosis
399087009	Propionic acidemia, type I
399126000	Bronze cirrhosis
399144008	Bronze diabetes
399149003	Propionic acidemia, type II
399170009	Primary hemochromatosis
399187006	Hemochromatosis
399249008	Adult fucosidosis
39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
39929009	Disorder of fatty acid metabolism
399947002	Progeroid short stature with pigmented nevi
399959003	Premature aging syndrome
400170001	Hypocalcemia of puerperium
402469004	Tophus co-occurrent and due to gout
402470003	Tophus of digit co-occurrent and due to gout
402471004	Tubero-eruptive xanthoma
402472006	Cutaneous xanthoma
402473001	Sporadic primary hypertriglyceridemia
402474007	Primary "polygenic" type Iib combined hyperlipidemia
402475008	Primary acquired chylomicronemia
402476009	Xanthoma secondary to lymphedema
402478005	Secondary xanthomatous infiltration of the skin
402479002	Sporadic porphyria cutanea tarda
402724009	Xanthoma due to abnormality of lipid metabolism
402725005	Hyperlipidemia with lipid deposition in skin
402726006	Primary chylomicronemia
402727002	Secondary hyperlipidemia
40278002	Hepatic fructokinase deficiency
402785008	Primary genetic hyperlipidemia
402786009	Chylomicronemia syndrome
402787000	Primary genetic mixed hyperlipidemia
402788005	Genetic disorder of lipid storage
403397004	Post-inflammatory cutis laxa
403398009	Cutis laxa following urticaria-angioedema
403399001	Cutis laxa following hypersensitivity reaction
403400008	Cutis laxa with complement deficiency
403672006	Drug-induced cutis laxa
403717002	Pseudoporphyria due to psoralen and long-wave ultraviolet radiation therapy
403732009	Hemodialysis-associated pseudoporphyria
403736007	Porphyria-like reaction caused by poison and/or environmental toxin
403737003	Porphyria caused by hexachlorobenzene
403738008	Porphyria caused by chlorinated phenol
403805009	Albinism-deafness syndrome of Tietz
403806005	Ziprkowski-Margolis syndrome
403807001	Phylloid hypomelanosis
403813005	Localized congenital cutis laxa
403814004	Cutis laxa secondary to inherited disorder of connective tissue
403827000	Familial lipoprotein lipase deficiency with type I phenotype
403828005	Familial lipoprotein lipase deficiency with type V phenotype
403829002	Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation
403830007	Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation
403831006	Familial hypercholesterolemia due to genetic defect of apolipoprotein B
403832004	Inherited disorder of porphyrin metabolism
404163009	Diffuse normolipemic plane xanthomatosis
40488004	Fanconi syndrome
405256006	Parturient paresis
40527005	Idiopathic pulmonary hemosiderosis
405287008	Intermediate maple syrup urine disease
405288003	Intermittent maple syrup urine disease
405566004	Paraneoplastic hyponatremia
405581005	Paraneoplastic hypokalemia
405733001	Hypocalcemia of late pregnancy or lactation
40607004	Hyperthyroidism due to hydatidiform mole with thyrotoxic crisis
40751003	Persistent hyperphenylalaninemia AND tyrosinemia
40777006	Chronic hyperkalemia
40791000119105	Postpartum gestational diabetes mellitus
40801000119106	Gestational diabetes mellitus complicating pregnancy
40802007	Metachromatic leukodystrophy, congenital type
408539000	Insulin autoimmune syndrome
408540003	Diabetes mellitus caused by non-steroid drugs
408670001	Iatrogenic carnitine deficiency
40873003	Sulfite oxidase deficiency syndrome
40946000	Hepatic coma due to viral hepatitis
40951006	Primary hyperoxaluria, type II
410050000	Clinical manifestation of carnosinase deficiency
410051001	Carnosinuria
410052008	Carnosinemia
410053003	Clinical manifestation of enzyme deficiency
410055005	Hyperimidodipeptiduria due to proline dipeptidase deficiency
410056006	Tyrosinemia type I
410058007	Histidinemia
410059004	Hydroxymethylglutaric aciduria
41013004	Argininosuccinate lyase deficiency
4107000	Infertile male syndrome
41142009	Globoid cell leukodystrophy, late-onset
41300001	X-linked reduction of thyroxine-binding globulin
41305006	Secondary oxalosis
413183008	Diabetes mellitus caused by non-steroid drugs without complication
41326006	Classical galactosemia, heterozygous type
413356003	4-Hydroxyphenylpyruvate dioxygenase deficiency
41345002	Rickets
414380008	Hawkinsinuria
41527003	Glycogen storage disease type VIII
41572006	Mucopolysaccharidosis III-A
415764005	Tyrosinemia type III
416676005	Macroamylasemia
4170004	Ehlers-Danlos syndrome, procollagen proteinase resistant
41797007	5,10-Methylenetetrahydrofolate reductase deficiency
418470004	Porphyria
419097006	Danon disease
419503008	Hyperhomocysteinemia
42012007	Neuronal ceroid lipofuscinosis
420200001	Magnesium disorder
42021008	Familial diabetes insipidus
420270002	Ketoacidosis due to type 1 diabetes mellitus
420422005	Ketoacidosis due to diabetes mellitus
421075007	Ketoacidotic coma due to type 1 diabetes mellitus
421437000	Hypoglycemic coma due to type 1 diabetes mellitus
421725003	Hypoglycemic coma due to diabetes mellitus
421750000	Ketoacidosis due to type 2 diabetes mellitus
421784001	Carnitine deficiency
42183005	Pseudohypoparathyroidism type II
421847006	Ketoacidotic coma due to type 2 diabetes mellitus
421966007	Non-ketotic non-hyperosmolar coma due to diabetes mellitus
422126006	Hyperosmolar coma due to diabetes mellitus
423148005	Disorder due to N-acetyltransferase enzyme variant
423350005	Fast acetylator due to N-acetyltransferase enzyme variant
423580001	Cytochrome p450 CYP1A2 enzyme deficiency
42393006	Methylmalonic acidemia
424099008	Hepatic coma due to acute hepatitis B
424224001	Cytochrome p450 enzyme deficiency
424340000	Hepatic coma due to chronic hepatitis B
42484009	Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency
424846003	Cytochrome p450 CYP3A enzyme deficiency
424925008	Cytochrome p450 CYP2E1 enzyme deficiency
42496002	Cystinuria, type 3
425079005	Slow acetylator due to N-acetyltransferase enzyme variant
426020004	Fat overload syndrome
426161002	Chemically induced hyperlipidemia
426255005	Dysglycemia
426387005	Long-chain fatty acid transport deficiency
426655001	Disorder of aromatic amino acid metabolism
42669007	Hyponatremia with excess extracellular fluid volume
426705001	Diabetes mellitus co-occurrent and due to cystic fibrosis
426875007	Latent autoimmune diabetes mellitus in adult
426896000	Chronic hypercapnic respiratory failure
426898004	Virilized female due to gestational hyperandrogenism
427089005	Diabetes mellitus due to cystic fibrosis
427195008	Hyperkalemia caused by angiotensin-converting enzyme inhibitor
427627006	Maternal virilization due to placental aromatase deficiency
427784006	Hypernatremic dehydration
428014009	Homozygous sitosterolemia
428173007	Chronic hypoxemic respiratory failure
428530009	Heterozygous sitosterolemia
42883007	Anoxia caused by high altitude
428839004	Arthritis of toe due to gout
428896009	Hyperosmolality due to uncontrolled type 1 diabetes mellitus
42927005	Cholemic nephrosis
42930003	Inborn error of amino acid metabolism
429428003	Chronic hypercapnia
42954008	Diabetes mellitus associated with receptor abnormality
429735007	Citrin deficiency
4307007	Pregestational diabetes mellitus AND/OR impaired glucose tolerance, modified White class F
43123004	Hypermethioninemia
431335002	Hypoxemia in newborn
43193009	Gouty iritis
43253002	Metabolic acidosis caused by ingestion of drugs AND/OR chemicals
43258006	Milk alkali syndrome
43339004	Hypokalemia
43449002	Thyroglobulin proteolysis defect
43465001	Inborn error of lipoprotein metabolism
43498006	Body fluid retention
43599001	Drug-induced porphyria
439006004	Hereditary hyperhomocysteinemia
43916004	Mucopolysaccharidosis type VII
43929004	Smith-Lemli-Opitz syndrome
43941006	Pseudohypoaldosteronism, type 1
440009	Persistent hyperphenylalaninemia
44018007	Cholestatic jaundice syndrome
44054006	Diabetes mellitus type 2
4409006	Adenosylcobalamin and methylcobalamin synthesis defect
441656006	Hyperglycemic crisis due to diabetes mellitus
441690002	Drug-induced hyperglycemia
44176004	Disorder of histidine metabolism
441963008	Cutis laxa of upper eyelid
442009005	Cutis laxa of lower eyelid
44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency
44359008	Metachromatic leukodystrophy, juvenile type
443894002	Alpha ketoadipic aciduria
444173008	Undervirilization of male due to steroidogenic acute regulatory protein deficiency
444707001	Glycogen storage disease type Ia
444755001	Disorder of isoleucine metabolism
444756000	Disorder of valine metabolism
444838008	Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase
444944006	Deficiency of 2,4-dienoyl-coenzyme A reductase
445009001	Azotemia
445010006	Low density lipoprotein receptor mutation
445120004	Uremia due to inadequate renal perfusion
445252005	Glucose transporter protein type 1 deficiency syndrome
445260006	Posttransplant diabetes mellitus
445261005	Posttransplant hyperlipidemia
445274004	Deficiency of isobutyryl-coenzyme A dehydrogenase
445275003	Deficiency of succinate-coenzyme A ligase
44553005	Dubin-Johnson syndrome
445571008	Isobutyrylglycinuria
445596006	2-methylbutyrylglycinuria
445612002	Postrenal azotemia
445646001	Prerenal azotemia
44574006	Porphyruria
44673006	Glucoaminophosphaturia syndrome
446923008	Lipoprotein glomerulopathy
447292006	Mitochondrial encephalomyopathy
44730006	Uremia
44759006	Volume depletion, extrarenal loss
4477007	Juvenile myopathy AND lactate acidosis
44779003	Disorder of amino acid metabolism
448834003	High density lipoprotein deficiency
44940001	Adenosine deaminase deficiency
449901005	Hepatic encephalopathy in fulminant hepatic failure
449902003	Portal systemic encephalopathy
450316000	Severe dehydration
450849003	Congenital monosaccharide malabsorption
45116002	Sepiapterin reductase deficiency
45188008	Glycoprolinuria
4519003	Hypouricemia
45235005	Mild steroid 21-hydroxylase deficiency
45369008	Neurohypophyseal diabetes insipidus
45646000	Subacute milk alkali syndrome
45744005	Disorder of mineral metabolism
4575002	Acute hyponatremia
45812003	Familial methionine malabsorption
459062008	Fatal congenital nonlysosomal heart glycogenosis
459063003	Congenital disorder of glycosylation type Ia
4598005	Osteomalacia
46166004	Compensated metabolic acidosis
46556004	Aminoacidemia
46635009	Diabetes mellitus type 1
46683007	Pyruvate dehydrogenase complex deficiency
46727001	Disorder of zinc metabolism
46785007	Familial juvenile gout
46885003	Osteomalacia of pelvis
46894009	Gestational diabetes mellitus, class A>2<
4690009	Metabolic acidosis caused by paraldehyde
46939000	Keshan disease
4702003	Inherited disorder of folate metabolism
472320005	Maternally inherited mitochondrial cardiomyopathy and myopathy
47417003	Volume depletion, gastrointestinal loss
47526003	Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency
47632004	Secondary porphyria
47641009	Orotic aciduria
47683004	Metachromatic leukodystrophy, late infantile type
47709007	Humoral hypercalcemia of malignancy
47719001	Hypervalinemia
47757001	Corticosterone 18-monooxygenase deficiency
47774001	Anticonvulsant drug-induced osteomalacia
4783006	Maternal diabetes mellitus with hypoglycemia affecting fetus OR newborn
479003	Graves' disease with pretibial myxedema AND with thyrotoxic crisis
47906008	Glutathionemia
47922009	Bilirubinuria
48286001	Disorder of lipoprotein AND/OR lipid metabolism
48440001	Arthritis due to gout
48638002	Nephrocalcinosis
48655003	Isolated familial renal hypomagnesemia
48839007	Glucagon resistance
4887000	Hypertyrosinemia, Richner-Hanhart type
48983004	X chromosome-linked sideroblastic anemia
49013001	17 alpha-Hydroxyprogesterone aldolase deficiency
4920001	Acetyl-CoA: carboxylase deficiency
49227001	Phosphatidylcholine-sterol acyltransferase deficiency
49379003	Disorder of chromium metabolism
49547008	Compensated alkalosis
49562005	Adult chronic GM 2 gangliosidosis
49748000	Succinate-semialdehyde dehydrogenase deficiency
49817004	Neonatal diabetes mellitus
4996001	Hypophosphatemia
4997005	Thyrotoxicosis factitia
49973006	Familial lipoprotein deficiency
50029007	Familial hypomagnesemia-hypercalciuria
50056009	Lysinuric protein intolerance, type 1
50122000	Metabolic encephalopathy
50279003	Metabolic bone disease
50327002	Chronic hyponatremia
50375007	Thyroid hormone responsiveness defect
50490005	Hypertensive encephalopathy
50658006	Testosterone 17-beta-dehydrogenase deficiency
50855007	Juvenile hemochromatosis
50869007	Ehlers-Danlos syndrome, type 8
50909009	Antifreeze oxalosis
50967008	Gangliosidosis
51002006	Diabetes mellitus associated with pancreatic disease
51022005	Erythropoietic protoporphyria
51080000	Complete testicular feminization syndrome
51097006	Transient neonatal hyperglycinemia
51294009	Metabolic acidosis, increased anion gap, accumulation of organic acids
51387008	Acidosis
51626007	Werner syndrome
5181007	Disorder of tryptophan metabolism
51984006	Dysmorphic sialidosis, infantile form
52070001	Acquired monosaccharide malabsorption
52139007	Volume excess, disturbed Starling forces
52165006	Niemann-Pick disease, type A
52186006	Dysmorphic sialidosis
52270006	Intermittent branched-chain ketonuria
52311001	Homocystinemia
52452006	Fumarylacetoacetase deficiency, chronic type
52600004	Osmolality disturbance
52677002	Deficiency of N-acetylgalactosamine-4-sulfatase
52724003	Iodide oxidation defect
52760008	Hypercalcemia due to granulomatous disease
52767006	Neonatal hypoglycemia
5280003	Cutis laxa senilis
52832001	Testicular feminization
5291005	Hypocalcemia
530558861000132104	Atypical diabetes mellitus
53124003	Prolinuria
53210006	Inborn error of pyruvate metabolism
53254000	Metabolic acidosis, increased anion gap, reduced excretion of inorganic acids
5335002	Phosphoenolpyruvate carboxykinase deficiency
53378008	Salt-wasting syndrome of infancy
5354002	Hyperkalemia, transcellular shifts
5368009	Drug-induced diabetes mellitus
53783003	Rowley-Rosenberg syndrome
53836006	Secondary hemochromatosis
5388008	Congenital lactase deficiency
54064006	Classical maple syrup urine disease
54119007	Congenital pancreatic trypsin deficiency
54155004	Illegal abortion with uremia
54470008	3 beta-Hydroxysteroid dehydrogenase deficiency
54627004	Hereditary xanthinuria
54736008	Xanthoma planum of eyelid
54781007	Hyperkalemia, diminished renal excretion
54879000	Hypokalemic nephropathy
54898003	Multiple sulfatase deficiency
54905006	Disorder of carbohydrate transport
54954004	Aspartylglucosaminuria
55056006	Hepatic porphyria
55178001	Starvation ketoacidosis
55236002	Infantile hypophosphatasia
55296004	X-linked excess of thyroxine-binding globulin
55341000119107	Carnitine deficiency due to inborn error of metabolism
55571001	Alcoholic ketoacidosis
55711009	Ehlers-Danlos syndrome, procollagen proteinase deficient
55731008	Arylsulfatase deficiency without metachromatic leukodystrophy
55783001	Muscle L-lactate dehydrogenase deficiency
5579000	Acute hyperkalemia
55807009	Toxic diffuse goiter with exophthalmos
55822004	Hyperlipidemia
55912009	Glycogen storage disease, type V
56041007	Hypothyroidism due to defect in thyroid hormone synthesis
56051008	Ketoacidosis
56090007	Pseudohypoparathyroidism type I B
56112001	Thyroxine transport defect
56233004	Calcipenic type rickets
5655007	Inherited disorder of bilirubin metabolism
56574000	Polyuric state
56595005	Hypertyrosinemia
56661000	Intestinal enteropeptidase deficiency
5667009	Hunter's syndrome, mild form
56692003	Rhizomelic chondrodysplasia punctata syndrome
56811006	Pseudohypophosphatasia
57119000	Hyperammonemia, type III
57218003	Cholesterol ester storage disease
57414003	Tyrosinosis
57507002	Pentose disorder
57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
57557005	Chronic milk alkali syndrome
57777000	Toxic nodular goiter
57835009	Hepatic methionine adenosyltransferase deficiency
57863006	Acid phosphatase deficiency
57886004	Protein-deficient diabetes mellitus
58067006	Metabolic acidosis, normal anion gap, failure of bicarbonate regeneration
58112007	Mannosidosis, type II
58136006	Nutritional disorder due to calcium-phosphorus imbalance
58256000	Dihydropteridine reductase deficiency
58258004	Infantile neuronal ceroid lipofuscinosis
58263000	Maroteaux-Lamy syndrome, severe form
58275005	Variegate porphyria
58459009	Sphingomyelin/cholesterol lipidosis
58558003	Hyperlysinemia
58588007	Cutis laxa
58610003	Leber's optic atrophy
58618005	Familial disease with storage of sterols (other than cholesterol)
58808003	Compensated respiratory acidosis
58833000	Pseudohypoparathyroidism type I A
58976002	Pseudohypoparathyroidism
59079001	Diabetes mellitus associated with hormonal etiology
59178007	Menkes kinky-hair syndrome
59229005	Familial porphyria cutanea tarda
59252009	Cutis laxa-corneal clouding-oligophrenia syndrome
59399004	Cutis laxa, x-linked
59451000	Cutis laxa, autosomal recessive
59455009	Metabolic acidosis
59531002	Tryptophan malabsorption syndrome
59586001	Hypokalemia, gastrointestinal losses
5963005	Subacute neuronopathic Gaucher's disease
59655002	Hyperprolinemia
59686008	Metabolic acidosis caused by ethylene glycol
5969009	Diabetes mellitus associated with genetic syndrome
59702004	Compensated acidosis
59761008	Glutamate formiminotransferase deficiency
59848001	Obstructive hyperbilirubinemia
59957008	Neonatal Graves' disease
59990008	Mucopolysaccharidosis III-B
60045007	Moderate steroid 21-hydroxylase deficiency
60118008	Acute respiratory alkalosis
60193003	Familial hypobetalipoproteinemia
60216004	Toxic diffuse goiter with thyrotoxic crisis
60268006	Toxic diffuse goiter with pretibial myxedema
60334003	Phosphate-loading hypocalcemia
60414003	Acquired lactase deficiency
60634005	Impaired glucose tolerance associated with drugs
60737008	Iron overload
60743005	Purine-nucleoside phosphorylase deficiency
6075009	Glycogen storage disease, hepatic form
60805002	Hemolytic anemia with emphysema AND cutis laxa
60853003	Disorder of magnesium metabolism
609451000	Induced termination of pregnancy complicated by metabolic disorder
609463005	Induced termination of pregnancy complicated by electrolyte imbalance
609490001	Induced termination of pregnancy complicated by uremia
60952007	Urocanate hydratase deficiency
609561005	Maturity-onset diabetes of the young
609562003	Maturity onset diabetes of the young, type 1
609563008	Pre-existing diabetes mellitus in pregnancy
609564002	Pre-existing type 1 diabetes mellitus in pregnancy
609565001	Permanent neonatal diabetes mellitus
609566000	Pregnancy and type 1 diabetes mellitus
609567009	Pre-existing type 2 diabetes mellitus in pregnancy
609568004	Diabetes mellitus due to genetic defect in beta cell function
609569007	Diabetes mellitus due to genetic defect in insulin action
609570008	Maturity-onset diabetes of the young, type 3
609571007	Maturity-onset diabetes of the young, type 4
609572000	Maturity-onset diabetes of the young, type 5
609573005	Maturity-onset diabetes of the young, type 6
609574004	Maturity-onset diabetes of the young, type 7
609575003	Maturity-onset diabetes of the young, type 8
609576002	Maturity-onset diabetes of the young, type 9
609577006	Maturity-onset diabetes of the young, type 10
609578001	Maturity-onset diabetes of the young, type 11
609579009	Diabetes mellitus, transient neonatal 1
609580007	Diabetes mellitus, transient neonatal 2
609581006	Diabetes mellitus, transient neonatal 3
61031008	Hypocapnia
61071003	Proline dehydrogenase deficiency
61120003	Acute hypokalemia
61164006	Erythropoietic coproporphyria
61165007	Hereditary nephrogenic diabetes insipidus
61172008	Infantile fucosidosis
61336008	Hypocholesterolemia
61367005	Jarcho-Levin syndrome
61451000	Classical galactosemia, homozygous Negro-type
61598006	Glycogenosis with glucoaminophosphaturia
6160004	Neonatal hemochromatosis
61663001	Juvenile neuronal ceroid lipofuscinosis
61688009	Overhydration
61764000	Homocarnosinase deficiency
61772003	Muscle phosphoglycerate mutase deficiency
6183001	Indian childhood cirrhosis
61860000	Porphyria cutanea tarda
61961002	Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism
62009002	Adult neuronal ceroid lipofuscinosis
62144003	Punctate oculocutaneous albinoidism
62151007	Leucine-induced hypoglycemia
62201009	Chronic non-neuropathic Gaucher's disease
62216007	Familial arthrogryposis-cholestatic hepatorenal syndrome
62278002	Toxic multinodular goiter with thyrotoxic crisis
62311004	Mannosidosis, type I
62332007	Infantile nephropathic cystinosis
62403005	Glucose-6-phosphate dehydrogenase deficiency anemia
62440002	Infantile GM 2 gangliosidosis
62578003	Congenital defect of folate absorption
62999006	Adiposogenital dystrophy
63103006	Xanthomatosis
63127008	Thyroglobulin synthesis defect
63246000	Cholestanol storage disease
63275006	Cow's milk hypocalcemia of newborn
63329001	Glycine dehydrogenase (decarboxylating) deficiency
63450009	Rufous albinism
63656007	Disorder of manganese metabolism
63702009	Alstrom syndrome
63844009	Oculocutaneous albinism
6400008	Xanthoma of eyelid
64081000	Porphobilinogen synthase deficiency
64235006	Ethanolaminosis
64624009	Hypoglycemic encephalopathy
64654004	Hyperglycinemia
64716005	Fucosidosis
6479008	Partial albinism
64814003	Miscarriage with electrolyte imbalance
6483008	Tyrosinase-negative oculocutaneous albinism
64852002	Sarcosine dehydrogenase deficiency
6509007	Electrolyte imbalance following molar AND/OR ectopic pregnancy
65277001	Imidazole aminoaciduria
65327002	Mucopolysaccharidosis type I-H
65389002	Adrenoleukodystrophy
65419005	Sitosterolemia with xanthomatosis
65520001	Primary hyperoxaluria, type I
65524005	Mannosidosis
65764006	Pseudo-Hurler polydystrophy
65791008	Adenine phosphoribosyltransferase deficiency, Japanese type
66002008	Persistent hyperlysinemia
66095000	Mixed hypoglycemia
66185005	Autosomal dominant excess of transthyretin
66266003	Phosphopenic type rickets
66521008	Deficiency of cerebroside-sulfatase
66576001	African nutritional hemochromatosis
66628005	Toxic diffuse goiter with exophthalmos AND with thyrotoxic storm
6669004	Cystathioninemia
66751000	Niemann-Pick disease, type C
66789005	Hepatocellular jaundice
66931009	Hypercalcemia
66937008	Glycogen storage disease, type III
66978005	Hypermagnesemia
67049004	Vitamin D-dependent rickets, type 1
67132008	Hypoxic nephrosis
67148009	Arthritis of great toe due to gout
67202007	Ehlers-Danlos syndrome, type 5
67312003	Erythropoietic porphyria
67434000	Cytochrome-c oxidase deficiency
67455003	Essential hypernatremia
67528009	Incomplete testicular feminization syndrome
67845009	Aminomethyltransferase deficiency
67854007	Maroteaux-Lamy syndrome, mild form
67855008	Niemann-Pick disease, type C, subacute form
68061000119109	Partial diabetes insipidus
68067009	Crigler-Najjar syndrome, type II
68295002	Vitamin D-dependent rickets
68390005	Sphingolipid activator protein 1 deficiency
68451005	Chronic arthritis due to gout
68528007	Hyperphenylalaninemia
68581004	Hypoglycemia of childhood
68724006	Tetrahydrobiopterin synthesis defect
6885006	Cystathionine gamma-lyase deficiency
68985000	Benign neonatal hyperaminoaciduria
69080001	Propionic acidemia
691471000119109	Ischemia co-occurrent and due to increased oxygen demand
69281008	Transfusion hemosiderosis
69329005	Toxic uninodular goiter with thyrotoxic crisis
69463008	Maroteaux-Lamy syndrome
69478001	Pancreatic colipase deficiency
69525003	Hereditary orotic aciduria, type 1
69614003	Adenosylcobalamin synthesis defect
69718008	Oxalate nephropathy
6974005	Fasting hypoglycemia
698290008	X-linked creatine deficiency
698729002	Hypercalcemia due to tuberculosis
69880002	Xanthoma tendinosum
698854006	Hyperandrogenism due to non-classic type of 21-hydroxylase deficiency
698870008	2-hydroxyglutaric aciduria
698953004	Inherited aminoaciduria
699189004	North American Indian childhood cirrhosis
699260009	Hypercalcemia due to hypervitaminosis D
699299001	Neuroferritinopathy
699315005	Neutral lipid storage disease with myopathy
699328003	Myoclonic epilepsy myopathy sensory ataxia
699681002	Gouty arthritis of temporomandibular joint
699869003	Interleukin-1 receptor-associated kinase 4 deficiency
700107006	Bartter syndrome antenatal type 1
700109009	Bartter syndrome antenatal type 2
700111000	Bartter syndrome type 3
700112007	Bartter syndrome type 4
700338003	Xanthoma of lower eyelid
700342000	Xanthoma of upper eyelid
700449008	Non-diabetic hyperglycemia
700463002	Alpha-methylacyl-CoA racemase deficiency disorder
70079009	Late effects of rickets (one year OR more)
701000119103	Mixed hyperlipidemia due to type 2 diabetes mellitus
70134007	Hypochloremic alkalosis
70140000	Receptor-positive androgen resistance syndrome
70199000	I-cell disease
702365002	Combined malonic and methylmalonic aciduria
702366001	Childhood myocerebrohepatopathy spectrum
702377007	Hypermanganesemia with dystonia, polycythemia, and cirrhosis
702440000	Cerebral creatine deficiency syndrome 3
703136005	Diabetes mellitus in remission
703137001	Type I diabetes mellitus in remission
703138006	Type II diabetes mellitus in remission
703254001	Pseudohypoaldosteronism type 2A
70348004	Pendred's syndrome
703526007	Progressive epilepsy-intellectual disability syndrome Finnish type
703527003	TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
704166007	Acquired hypocalciuric hypercalcemia
7046009	Hyperleucine-isoleucinemia
70528007	Mucolipidosis
70610001	Ehlers-Danlos syndrome, recessive type 4
70644008	Acute respiratory acidosis
70694009	Diabetes mellitus AND insipidus with optic atrophy AND deafness
70731005	Acidemia
70737009	Mucopolysaccharidosis type II
707441009	Milk-induced pulmonary disease in infant
707551007	Pulmonary interstitial glycogenosis
707742001	Bartter syndrome
707755000	Familial hypokalemic and hypomagnesemic tubulopathy
707756004	Gitelman syndrome
708122002	Steroid-induced hyperglycemia
7085002	Hypercalcemia due to sarcoidosis
708672004	Odontohypophosphatasia
709075008	Aromatase excess syndrome
709109004	Hypercapnic respiratory failure
709110009	Acute hypercapnic respiratory failure
709111008	Acute hypoxemic respiratory failure
709147009	Gingivitis co-occurrent with diabetes mellitus
709282004	Deficiency of aminoacylase 1
709412006	Congenital disorder of glycosylation type 1c
709413001	Isolated hyperchlorhidrosis
709414007	Deficiency of mitochondrial complex III
709465004	Periodontitis co-occurrent with Chédiak-Higashi syndrome
709490002	Desmosterolosis
709556009	Periodontitis co-occurrent with hypophosphatasia
709561006	Periodontitis co-occurrent with glycogen storage disease
709604005	Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4
710733002	Chronic gout without tophus
710734008	Secondary chronic gout without tophus
711151004	Hypomagnesemia with secondary hypocalcemia
711152006	Autosomal dominant hypocalcemia
711155008	ALG12-congenital disorder of glycosylation
711409002	3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
711412004	3-methylglutaconic aciduria type 5
71253000	Tay-Sachs disease, variant AB
712640001	Deficiency of phosphomannomutase 2
712641002	Deficiency of glucosyltransferase 1
71322004	Ehlers-Danlos syndrome, familial joint laxity type
713401006	Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
713890008	Hypoxemia during surgery
715318006	Ehlers-Danlos syndrome classic type
715338007	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria
715374003	Autosomal dominant optic atrophy plus syndrome
715632003	Oculocutaneous albinism type 4
715633008	Atypical Werner syndrome
715830008	Exercise-induced hyperinsulinism
715923003	Lysosomal acid lipase deficiency
716200002	Nephrogenic diabetes insipidus and intracranial calcification syndrome
716362006	Gingival disease co-occurrent with diabetes mellitus
71638002	Disorder of calcium metabolism
716712004	Secondary pulmonary hemosiderosis
716716001	Deficiency of Zeta-chain associated protein kinase 70
716721003	Genetic recurrent myoglobinuria
716747007	Dicarboxylic aminoaciduria syndrome
716863007	Citrullinemia type II
71690006	Galactosuria
71702000	Maple syrup urine disease, multiple dehydrogenase form
717041008	Syndromic recessive X-linked ichthyosis
717044000	Adult onset non-insulinoma persistent hyperinsulinemic hypoglycemia
717045004	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
717046003	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
717047007	Bile acid coenzyme A ligase deficiency and defective amidation
717048002	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
717054001	Maternally inherited mitochondrial dystonia
717181004	Hyperprolinemia type 2
717182006	Hyperinsulinism due to deficiency of glucokinase
717185008	Deficiency of leukotriene C4 synthase
717263009	Transient pseudohypoaldosteronism
717276003	Folinic acid responsive seizure syndrome
71751002	Lysinuric protein intolerance, type 2
717773005	Component of oligomeric golgi complex 7 congenital disorder of glycosylation
717774004	Component of oligomeric golgi complex 8 congenital disorder of glycosylation
717787005	Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement
717788000	Familial primary hypomagnesemia with normocalciuria
717791000	Bartter syndrome type 4a
717792007	Pseudohypoparathyroidism type 1C
717812000	Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
717821004	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
71785001	Water intoxication syndrome
717888008	Hyperinsulinism due to focal adenomatous hyperplasia
717934004	Osteomalacia due to vitamin D deficiency
717942003	Brain dopamine-serotonin vesicular transport disease
717961004	Chloride non-responsive metabolic alkalosis
717962006	Chloride responsive metabolic alkalosis
718106009	Hyperinsulinism and hyperammonemia syndrome
718124006	Fatal infantile cytochrome C oxidase deficiency
718193005	Peripheral resistance to thyroid hormone
718210003	Deficiency of monoamine oxidase A
718211004	Ehlers-Danlos syndrome kyphoscoliotic type
718212006	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
718214007	Mitochondrial neurogastrointestinal encephalomyopathy syndrome
718219002	Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
718558008	Mevalonic aciduria
71858003	Autoimmune hypoglycemia
718603002	Deficiency of phosphoserine aminotransferase
718712005	Carbohydrate deficient glycoprotein syndrome type 1m
718713000	Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
718721006	Congenital analbuminemia
718750004	Component of oligomeric golgi complex 1 congenital disorder of glycosylation
718751000	Component of oligomeric golgi complex 4 congenital disorder of glycosylation
718880003	Zellweger-like syndrome without peroxisomal anomaly
719096006	Brittle cornea syndrome
719216001	Hypoglycemic coma due to type 2 diabetes mellitus
719257008	Lathosterolosis
719377004	Microcephalus with albinism and digital anomaly syndrome
71938000	Hypercalciuria
719430008	Leber plus disease
719449007	Deficiency of dimethylglycine dehydrogenase
719454003	Congenital bile acid synthesis defect type 3
71946004	Compensated respiratory alkalosis
719680009	Tophus of toe co-occurrent and due to gout
719816006	X-linked sideroblastic anemia with spinocerebellar ataxia
719974003	Hemochromatosis type 3
719975002	Autosomal dominant hereditary hemochromatosis
720513002	Arthrogryposis with renal dysfunction and cholestasis syndrome
720519003	Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
720520009	Attenuated Chédiak-Higashi syndrome
720827002	Multiple mitochondrial dysfunctions syndrome
720830009	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
720831008	Deficiency of cathepsin D
720858001	Ehlers-Danlos syndrome cardiac valvular type
720859009	Ehlers-Danlos syndrome kyphoscoliotic and deafness type
720860004	Ehlers-Danlos syndrome musculocontractural type
720861000	Ehlers-Danlos syndrome progeroid type
720864008	Encephalopathy due to prosaposin deficiency
720940008	Hepatic lipase deficiency
720941007	Asparagine-linked glycosylation 1 congenital disorder of glycosylation
720951008	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
720976009	Asparagine-linked glycosylation 3 congenital disorder of glycosylation
720977000	Asparagine-linked glycosylation 8 congenital disorder of glycosylation
720978005	Asparagine-linked glycosylation 9 congenital disorder of glycosylation
721088003	Developmental delay, epilepsy, neonatal diabetes syndrome
721099001	Adult polyglucosan body disease
721100009	Component of oligomeric golgi complex 5 congenital disorder of glycosylation
721163008	Fluid overload without edema
721172000	Hypomagnesemia co-occurrent with normocalciuria
721173005	Hypotonia cystinuria syndrome
721183009	Low alkaline phosphatase due to chronic kidney disease
721187005	Methylcobalamin deficiency type cbl G
721225009	Homocystinuria without methylmalonic aciduria
721234004	Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency
721235003	Hyperinsulinism due to insulin receptor deficiency
721236002	Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
721283000	Acidosis due to type 1 diabetes mellitus
721284006	Acidosis due to type 2 diabetes mellitus
721285007	Chronic primary gouty arthritis
721834007	Hyperinsulinism due to uncoupling protein 2 deficiency
721838005	Familial hypertryptophanemia
721840000	Hyperuricemia, anemia, renal failure syndrome
721973006	Lipodystrophy, intellectual disability, deafness syndrome
722008003	Isolated autosomal dominant hypomagnesemia Glaudemans type
722037004	Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
722054007	Ocular albinism with late-onset sensorineural deafness
722057000	Oculocutaneous albinism type 5
722058005	Oculocutaneous albinism type 6
722059002	Oculocutaneous albinism type 7
722206009	Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome
722207000	Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
722212004	Severe X-linked mitochondrial encephalomyopathy
722285005	Albinism with deafness syndrome
722292000	Autosomal dominant beta2-microglobulinic amyloidosis
722302009	Glycogen storage disease type II infantile onset
722343009	Glycogen storage disease type II late onset
722454003	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
722457005	Juvenile cataract, microcornea, renal glucosuria syndrome
722468005	Distal renal tubular acidosis co-occurrent with sensorineural deafness
722488009	Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
72262000	Inborn error of glutathione metabolism
722762005	Ganglioside GM3 synthase deficiency
722851003	Primary lactase deficiency
722923006	Neonatal hyperbilirubinemia following total parenteral nutrition
722924000	Neonatal hyperbilirubinemia caused by drugs and/or toxins given to the newborn
722927007	Neonatal hyperglycemia due to insulin deficiency
722928002	Metabolic bone disease of prematurity
722937002	Birth asphyxia co-occurrent with metabolic acidemia of cord blood
722947004	Hypocalcemic rickets
723307008	Ethylmalonic encephalopathy
723360007	Familial hypercholanemia
723367005	Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
723452007	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
723454008	Phosphoribosylpyrophosphate synthetase superactivity
723552005	Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency
723557004	Thiamine-responsive encephalopathy
723579009	Tangier disease
723583009	Steroid dehydrogenase deficiency and dental anomaly syndrome
723624008	Solute carrier family 35 member A1 congenital disorder of glycosylation
723675006	Sialidosis type 1
723994004	Seizures and intellectual disability due to hydroxylysinuria syndrome
724039002	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
724040000	Deficiency of S-adenosylhomocysteine hydrolase
724067006	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
724096007	Congenital disorder of glycosylation type 1f
724099000	Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
724138007	Mitochondrial myopathy with sideroblastic anemia syndrome
724142005	Carbohydrate deficient glycoprotein syndrome type 2a
724146008	Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
724173009	Maternally inherited cardiomyopathy and hearing loss syndrome
724227000	Infantile onset spinocerebellar ataxia
724279004	Combined oxidative phosphorylation defect type 5
724344004	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
724351008	Hereditary hyperekplexia
724356003	Hereditary combined deficiency of vitamin K-dependent clotting factors
72452005	Cerebral hypernatremia
724559006	Myopathy co-occurrent and due to hypercalcemia
724575009	Coenzyme Q10 deficiency
724576005	Pyridoxal 5-phosphate dependent epilepsy
724638006	Splenomegaly co-occurrent and due to storage disease
724766009	Chorea co-occurrent and due to Wilson disease
724768005	Ataxia co-occurrent and due to cerebrotendinous xanthomatosis
724769002	Ataxia co-occurrent and due to phytanic acid storage disease
724770001	Ataxia co-occurrent and due to abetalipoproteinemia
724784006	Demyelination of central nervous system co-occurrent and due to mitochondrial disease
72488000	Niemann-Pick disease, type C, chronic form
725026008	Hepatic glycogen synthase deficiency
725027004	Muscle and heart glycogen synthase deficiency
725028009	Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
725031005	Familial primary hypomagnesemia with normocalciuria and normocalcemia
725033008	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
725044000	Carbohydrate deficient glycoprotein syndrome type 1o
725046003	Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9
725078006	Congenital disorder of glycosylation type 1e
725079003	Congenital disorder of glycosylation type 1j
72523005	X-linked ichthyosis with steryl-sulfatase deficiency
725286002	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase
725289009	5-amino-4-imidazole carboxamide ribosiduria
725296006	Mucolipidosis type IV
725393000	Autosomal dominant primary hypomagnesemia with hypocalciuria
725394006	Autosomal recessive ataxia due to ubiquinone deficiency
725464001	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
725587007	Carbohydrate deficient glycoprotein syndrome type 2d
7259005	Mucopolysaccharidosis IV-A
725903003	Autosomal dominant myoglobinuria
726021008	Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
726079008	Hereditary hypercarotenemia and vitamin A deficiency
726080006	Autosomal recessive hypophosphatemic rickets
726081005	Hereditary hypophosphatemic rickets with hypercalciuria
7265005	Glycogen storage disease, type I
726702005	Epileptic encephalopathy with global cerebral demyelination
72682008	Isolated xanthine oxidase deficiency
72744008	Gronblad-Strandberg syndrome
72825009	Shunt hemosiderosis
72831007	Vitamin D-dependent rickets, type 2
72836002	Hepatic coma
72925005	Congenital cystic disease of liver
72945002	Kynureninase deficiency
73068003	X-linked variant form of thyroxine-binding globulin
73123008	Mucopolysaccharidosis type I-S
73146005	Hunter's syndrome, severe form
73211009	Diabetes mellitus
732245008	Pure mitochondrial myopathy
732246009	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
732252005	Carbohydrate deficient glycoprotein syndrome type 2k
732264002	Coenzyme A synthase protein associated neurodegeneration
73281004	Chronic zinc deficiency
732951005	Mitochondrial myopathy, lactic acidosis, deafness syndrome
732959007	Beta-propeller protein-associated neurodegeneration
733072002	Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
733083006	Congenital disorder of glycosylation type 1r
733084000	Congenital disorder of glycosylation type 1n
733085004	Congenital disorder of glycosylation type 1p
733086003	Pseudoprogeria syndrome
733111000	Congenital disorder of glycosylation type 1w
733112007	Congenital disorder of glycosylation type 1x
733115009	Congenital disorder of glycosylation type 1y
733448000	Deficiency of guanylate cyclase 2C
733450008	Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1
733451007	Congenital disorder of glycosylation type 1s
733452000	Leukoencephalopathy, dystonia, motor neuropathy syndrome
733457006	Ehlers-Danlos and osteogenesis imperfecta syndrome
733466005	Camptodactyly taurinuria syndrome
733599009	Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency
733600007	Combined oxidative phosphorylation defect type 8
733601006	Congenital disorder of glycosylation type 1q
733623005	Autism spectrum disorder, epilepsy, arthrogryposis syndrome
733630004	Deficiency of alpha-ketoglutarate dehydrogenase
733636005	3-phosphoglycerate dehydrogenase deficiency juvenile form
733637001	3-phosphoglycerate dehydrogenase deficiency infantile form
734019006	Chronic diarrhea with villous atrophy syndrome
734022008	Wolfram-like syndrome
734173003	Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome
734434007	Pyridoxine-dependent epilepsy
73475009	Hepatogenous chronic copper poisoning
73480000	Impaired glucose tolerance associated with hormonal etiology
734990008	Primary hyperoxaluria type III
735386008	Acute hypoxemic respiratory failure co-occurrent with acute hypercapnic respiratory failure
735421004	Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome
735422006	Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase
735423001	Deficiency of sarcoplasmic reticulum calcium adenosinetriphosphatase 1
735475005	Renal hypocalciuria
735496003	Transient neonatal hypoglycemia due to hyperinsulinemia
735497007	Transitory iatrogenic neonatal hypoglycemia
735537007	Hyperosmolar hyperglycemic coma due to diabetes mellitus without ketoacidosis
735538002	Lactic acidosis due to diabetes mellitus
735539005	Metabolic acidosis due to diabetes mellitus
735732003	Liver disease co-occurrent and due to mitochondrial disorder
735746003	Metabolic acidemia in newborn
735909008	Dehydration following exertion
7361000175106	Acute-on-chronic hypercapnic respiratory failure
736652002	Neonatal metabolic disorder
737203001	Disorder of liver co-occurrent and due to disorder of urea cycle
737212004	Diabetes mellitus caused by chemical
73843004	Cobalamin A disease
73856006	Cutis laxa with osteodystrophy
73869005	Toxic uninodular goiter
73873008	Metabolic disease of collagen
73877009	Chronic tophaceous gout
74003001	Hyponatremia with normal extracellular fluid volume
7405009	Acute hypernatremia
7409003	Secondary periodic paralysis
74116004	Nutritional muscular degeneration
74185008	Hyponatremia with extracellular fluid depletion
7425008	Hereditary coproporphyria
742876007	Peroxisome biogenesis disorder
74320008	Woolf's syndrome
74450001	Hyperchloremia
74479008	Localized metabolic disorder
74653006	Cobalamin C disease
74991009	Cobalt deficiency disease
75022004	Gestational diabetes mellitus, class A>1<
75066002	Chronic cholestatic jaundice syndrome
75238000	Mucopolysaccharidosis III-C
75387001	Transient neonatal hypertyrosinemia
75524006	Malnutrition related diabetes mellitus
75598001	Chloride disorder
75610003	Mucopolysaccharidosis type I
75652008	Familial renal iminoglycinuria
75682002	Diabetes mellitus caused by insulin receptor antibodies
7573000	Classical phenylketonuria
75853001	Central nervous system disorder of water regulation
75934005	Metabolic disease
761000119102	Dyslipidemia due to type 2 diabetes mellitus
76175005	Glutaric aciduria, type 1
76220009	Mixed acid-base balance disorder
762291006	Syndrome of infant of mother with gestational diabetes
762292004	Neonatal hyperglycemia due to iatrogenic intravenous therapy
763110007	Combined oxidative phosphorylation defect type 13
76314005	Disorder of fluid AND/OR electrolyte
763203009	Combined oxidative phosphorylation defect type 15
763204003	Combined oxidative phosphorylation defect type 7
763209008	Combined oxidative phosphorylation defect type 9
763211004	Combined oxidative phosphorylation defect type 21
763212006	Combined pancreatic lipase and colipase deficiency
763280005	Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
763312008	Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome
763320005	Craniofaciofrontodigital syndrome
763325000	Insulin resistance
763348005	Autosomal recessive cerebellar ataxia with late-onset spasticity
763366000	Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome
763531001	Familial benign copper deficiency
763688008	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
763720007	Hypermethioninemia due to deficiency of glycine N-methyltransferase
763721006	Hypermethioninemia encephalopathy due to deficiency of adenosine kinase
763778003	Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
764456001	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
764733009	Progressive external ophthalmoplegia, myopathy, emaciation syndrome
764860006	3-methylglutaconic aciduria type 7
764943000	Combined oxidative phosphorylation defect type 2
764962002	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
765100000	Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
765137006	Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
765146000	Oculocutaneous albinism type 1
765329008	Carbamoyl-phosphate synthetase 1 deficiency
765401006	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
765403009	F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
766251006	Lethal infantile mitochondrial myopathy
766876004	Combined oxidative phosphorylation defect type 4
767133009	Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
767134003	Low density lipoprotein receptor adaptor protein 1 mutation
767139008	Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations
76751001	Diabetes mellitus in mother complicating pregnancy, childbirth AND/OR puerperium
768553002	Hypermanganesemia with dystonia
768554008	Hypermanganesemia with dystonia 2
768846004	N-glycanase 1 congenital disorder of deglycosylation
76938004	Infantile encephalopathy AND lactic acidosis
770567006	Progeroid syndrome Petty type
770655004	Microcephalus, brain defect, spasticity, hypernatremia syndrome
770755007	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
770924008	Acute gout
77098009	Pseudohypoaldosteronism
771113001	Sodium retention
771115008	Hypernatremia
771305006	Progressive polyneuropathy with bilateral striatal necrosis
771339005	Hyperzincemia and hypercalprotectinemia
771442003	Ogden syndrome
771444002	Methylmalonic aciduria due to transcobalamin receptor defect
771445001	Autosomal recessive infantile hypercalcemia
771448004	Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
771469002	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
771478008	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency
771509001	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation
771513008	Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency
771516000	Solute carrier family 35 member A2 congenital disorder of glycosylation
77274005	Idiopathic diabetes insipidus
773276004	Ehlers-Danlos syndrome spondylocheirodysplastic type
773329005	CK syndrome
773331001	Nestor Guillermo progeria syndrome
773398005	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
773406003	Mandibular hypoplasia, deafness, progeroid syndrome
773415005	Contiguous ABCD1 DXS1357E deletion syndrome
773418007	Xylosyltransferase 1 congenital disorder of glycosylation
773423007	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
773426004	Lamin A/C related cardiocutaneous progeria syndrome
773492007	Childhood-onset spasticity with hyperglycinemia
773575001	Ocular albinism with congenital sensorineural deafness
773576000	Progressive retinal dystrophy due to retinol transport defect
773643006	Multiple congenital anomalies, hypotonia, seizures syndrome type 2
773644000	Progeroid and marfanoid aspect, lipodystrophy syndrome
773648002	Congenital cataract, hearing loss, severe developmental delay syndrome
773649005	Transient infantile hypertriglyceridemia and hepatosteatosis
77365006	Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency
773666007	Hypoinsulinemic hypoglycemia and body hemihypertrophy
773668008	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
773726000	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
77402005	Disorder of lysine AND/OR hydroxylysine metabolism
774148007	Polyglucosan body myopathy type 1
774151000	Ferro-cerebro-cutaneous syndrome
774154008	Periodic paralysis with later-onset distal motor neuropathy
774205007	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
7752002	Unconjugated hyperbilirubinemia
775908005	Combined oxidative phosphorylation defect type 17
77624000	Volume excess, primary renal sodium retention
776416004	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
776417008	Acroosteolysis, keloid-like lesions, premature aging syndrome
7772007	Erythropoietic hemochromatosis
777998000	Temtamy preaxial brachydactyly syndrome
778022009	Ehlers-Danlos syndrome due to tenascin-X deficiency
778025006	Atypical hypotonia cystinuria syndrome
778029000	FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
778048001	Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
778065005	Combined oxidative phosphorylation defect type 14
778067002	Brachytelephalangic chondrodysplasia punctata
778068007	Autosomal recessive cutis laxa type 2B
77817004	Neu-Laxova syndrome
780820008	Isolated adenosine triphosphate synthase deficiency
7810004	Glycoprotein storage disorder
781386002	Deficiency of nudix hydrolase 15
782167001	Stewart-Morel-Morgagni syndrome
782696001	Recessive mitochondrial ataxia syndrome
782739000	Male emopamil-binding protein disorder with neurological defect
782744007	Lipoic acid synthetase deficiency
782745008	Lipoyl transferase 1 deficiency
782755007	Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome
782757004	Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
782771007	Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form
782772000	Congenital muscular dystrophy with intellectual disability and severe epilepsy
782825008	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
782828005	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
782886007	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
782918002	2-aminoadipic 2-oxoadipic aciduria
783057002	DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome
783064000	Progressive myoclonic epilepsy type 3
783065004	Autosomal recessive optic atrophy type 7
78311009	Histidine transport defect
783157004	Leigh syndrome with nephrotic syndrome
783174004	Congenital muscular dystrophy with intellectual disability
783175003	Congenital muscular dystrophy without intellectual disability
783176002	Congenital muscular dystrophy with cerebellar involvement
783178001	Combined oxidative phosphorylation deficiency type 20
783558004	Combined oxidative phosphorylation defect type 11
783559007	Reunion Island Larsen-like syndrome
783615009	Erythropoietic uroporphyria associated with myeloid malignancy
783616005	Perilipin 1 related familial partial lipodystrophy
783620009	Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis
783696009	Hyperandrogenism due to cortisone reductase deficiency
783717008	Phosphoglucomutase 1-related congenital disorder of glycosylation
783722008	Myopathy and diabetes mellitus
78373000	Sucrase-isomaltase deficiency
783734000	Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency
783740007	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency
783741006	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
783767001	Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency
783768006	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
784346006	Navajo neurohepatopathy
784347002	Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
784349004	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
784370005	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
784373007	Beta-mercaptolactate cysteine disulfiduria
784381008	Autosomal recessive cutis laxa type 2A
785303004	Multiple congenital anomalies, hypotonia, seizures syndrome
78544004	Chronic hypertensive uremia
78548001	Enzymopathy
78586005	gamma-Glutamyltransferase deficiency
78642008	Ocular albinism, type I
787412002	Short chain acyl-coenzyme A dehydrogenase deficiency
78812008	Neonatal dehydration
788491008	Hyperinsulinemia due to malignant insulinoma
788492001	Hyperinsulinemia due to benign insulinoma
78921008	Autosomal recessive ocular albinism
78960005	Pancreatic triacylglycerol lipase deficiency
789657008	ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
789762004	Delayed conjugation of bilirubin
791000124107	2-methyl-3-hydroxybutyric aciduria
79169000	Alkalemia
79385002	Lowe syndrome
79488001	Thyroxine plasma membrane transport defect
79886009	Disorder of copper metabolism
79935000	Farber's lipogranulomatosis
80006005	Disorder of bilirubin metabolism
80119007	Pericarditis co-occurrent and due to uremia
80231000119105	Circulating enzyme deficiency
80394007	Hyperglycemia
80473005	Neonatal hyperhistidinemia
80544005	Spongy degeneration of central nervous system
80710001	Primary hypomagnesemia
80887004	Inherited methylmalonic acidemia AND homocystinuria
80902009	Neutral 1 amino acid transport defect
80908008	Ornithine carbamoyltransferase deficiency
80963002	Glucose-6-phosphate dehydrogenase deficiency class V variant anemia
81475007	Acquired nephrogenic diabetes insipidus
81531005	Diabetes mellitus type 2 in obese
816067005	Diabetes, hypogonadism, deafness, intellectual disability syndrome
81677009	Lactation tetany
81685000	Pancreatic alpha-amylase deficiency
81873006	Iodide peroxidase defect
81891001	Hypersecretion of ovarian androgens
81896006	Dysmorphic sialidosis with renal involvement
81986001	Renal secondary osteodystrophia fibrosa
81987005	Familial hypokalemic alkalosis, Gullner type
819953000	Glycogen storage disease due to muscle phosphorylase kinase deficiency
82003006	Glucose-6-phosphate dehydrogenase deficiency class IV variant anemia
82141001	Pregestational diabetes mellitus AND/OR impaired glucose tolerance, modified White class A
82236004	Familial x-linked hypophosphatemic vitamin D refractory rickets
82245003	Cobalamin B disease
82260000	Pregestational diabetes mellitus AND/OR impaired glucose tolerance, modified White class R
822995009	Hyperglycemia due to diabetes mellitus
82319005	Acyl-coenzyme A dehydrogenase deficiency
82342003	Yellow mutant oculocutaneous albinism
82500001	Wolman's disease
82701004	Pregestational diabetes mellitus AND/OR impaired glucose tolerance, modified White class FR
827115000	Autosomal dominant progressive external ophthalmoplegia
827117008	Autosomal recessive progressive external ophthalmoplegia
82793005	Hypothalamic obesity
82800008	Dipsogenic diabetes insipidus
828971000000101	Primary hyperoxaluria, type III
82994006	Amino acid deficiency
830052009	Polycystic ovary syndrome of right ovary
830053004	Polycystic ovary syndrome of left ovary
830054005	Polycystic ovary syndrome of bilateral ovaries
83076007	Disorder of glycine metabolism
83201000119108	Secondary carnitine deficiency
83469008	Hyperinsulinism
83470009	Ehlers-Danlos syndrome, type 1
83563007	Renal hemosiderosis
83586000	Ehlers-Danlos syndrome, dysfibronectinemic
836343001	Hereditary xanthinuria type 1
83761007	Hepatic hemosiderosis
83817008	Altitude alkalosis
83832001	Metachromatic leukodystrophy without arylsulfatase deficiency
83850008	Acidosis co-occurrent and due to uremia
83858001	Indicanuria
84121007	Iminoglycinuria
84193000	alpha, alpha-Trehalase deficiency
84260001	Hemoglobinopathy with cyanosis
84264005	Muscle carnitine deficiency
84361000119102	Insulin reactive hypoglycemia due to type 2 diabetes mellitus
84371000119108	Hypoglycemia due to type 1 diabetes mellitus
84618009	Disorder of propionate AND/OR methylmalonate metabolism
8468007	Legal abortion with uremia
84727000	Osteitis fibrosa cystica
84816006	Chester-type porphyria
849171000000106	Impaired glucose regulation
84937002	Cerebral hyponatremia
85020001	Cystinuria
852781000000103	Adult cystinosis
85444005	Disorder of pyrimidine metabolism
85487008	Renal phosphaturia
858301000000107	Pre-diabetes
85880000	Pseudohypoaldosteronism, type 1, dominant form
860858001	Glycogen storage disease due to muscle pyruvate kinase deficiency
860859009	Erythropoietic protoporphyria due to ferrochelatase deficiency
860860004	Glycogen storage disease type IXB
86095007	Inborn error of metabolism
86353007	Hypocalciuria
86444004	Niemann-Pick disease, type C, acute form
86531000119105	Abnormal lipid deposits
86667008	Ehlers-Danlos syndrome, dominant type 4
86859003	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia
870313002	Perinatal lethal Gaucher disease
870383008	Deficiency of 24-hydroxylase
87049008	Disorder of phosphorus metabolism
870590002	Acute hypoxemic respiratory failure due to disease caused by Severe acute respiratory syndrome coronavirus 2
87074006	Salla disease
87235005	Dialysis disequilibrium syndrome
874900008	Moderate deficiency of glucose-6-phosphate dehydrogenase
8764008	Chronic respiratory acidosis
87694001	Pyruvate carboxylase deficiency
87827003	Isovaleryl-coenzyme A dehydrogenase deficiency
87898000	Neonatal hypomagnesemia
879937000	Alpha-N-acetylgalactosaminidase deficiency type 1
880065001	Alpha-N-acetylgalactosaminidase deficiency type 2
880066000	Alpha-N-acetylgalactosaminidase deficiency type 3
8801005	Secondary diabetes mellitus
8808004	Biotinidase deficiency
88351001	Hypercalcemia associated with chronic dialysis
88380005	Acute milk alkali syndrome
88393000	Sanfilippo syndrome
88469006	Zellweger syndrome
8849004	Uridine diphosphate glucose-4-epimerase deficiency
88512005	Impaired glucose tolerance associated with insulin receptor abnormality
88518009	Wilson's disease
8868001	Dyshormonogenetic goiter AND iodide leak
88740003	Thyrotoxicosis factitia with thyrotoxic crisis
8900005	Hypoproteinemia
890171006	Ketosis-prone diabetes mellitus
890435004	Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase
890436003	Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
8933000	Crigler-Najjar syndrome, type I
894741000000107	Hypoglycaemic warning absent
895227002	Fetal hypercapnia
89579000	Tetrahydrofolate methyltransferase deficiency
89597008	Glycogen storage disease, type VII
89627008	Hyponatremia
89719007	Thyrotoxicosis without goiter or other cause
897592003	Congenital disorder of glycosylation type 1i
898091000000107	Organic acidaemia
90054000	Iatrogenic hyperinsulinism
90073001	Collagen deficiency syndrome
90093009	Hereditary orotic aciduria, type 2
90500005	Carnitine palmitoyltransferase deficiency
90505000	Autosomal recessive hypophosphatemic vitamin D refractory rickets
90560007	Inflammatory disorder due to increased blood urate level
90616004	Chronic respiratory alkalosis
90739004	Thyrotoxicosis
9105005	Muscle adenosine monophosphate deaminase deficiency
91180009	Pseudohypoaldosteronism, type 1, recessive form
91273001	Lactic acidosis
9128006	Disorder of the gamma-glutamyl cycle
91352004	Diabetes mellitus due to structurally abnormal insulin
91632005	Hypophosphaturia
924311000000106	Acute exacerbation of gout
9311003	Hermansky-Pudlak syndrome
9326001	Conjugated hyperbilirubinemia
9345005	Dialysis dementia
93466004	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
9360008	Hyperammonemia
9386003	Gouty neuritis
9414007	Impaired glucose tolerance
9537004	Juvenile GM 2 gangliosidosis
95565000	Pseudoporphyria
95569006	Uremic coma
95582003	Kidney crystallization
95612000	Neonatal respiratory acidosis
95613005	Neonatal respiratory alkalosis
95622006	Fetal virilism
95837007	Central cyanosis
9635004	Late metabolic acidosis of newborn
9723006	Hyperphosphatasemia with bone disease
97361000119109	Hypoalbuminemia due to protein calorie malnutrition
9936001	Perinatal jaundice due to fetal OR neonatal hepatitis
9979004	Disorder of androgen receptor

Metabolic disease + all descendants

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