QT - LD

Coding system: SNOMED CT (UK Clinical Edition)
Coding system release: 35.2.0
Author: Tom Nichols
Codelist ID: user/tom-nichols/qt-ld
Version ID: 3769422d
Number of codes included: 811

Versions

3769422d Published
Created: 17 Jan 2023 at 14:31
5078b562 Published
Created: 17 Jan 2023 at 14:31

No metadata has been provided for this codelist.

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
10007009	Coffin-Siris syndrome
1003368009	Molybdenum cofactor deficiency complementation group B
1003373003	Microcephaly with simplified gyral pattern
1003374009	Microlissencephaly
1003376006	Medial duplication of long arm of chromosome 9
1003377002	Medial duplication of short arm of chromosome 1
1003387003	Molybdenum cofactor deficiency complementation group C
1003389000	Mosaic 1q duplication
1003409002	Maternal 15q11q13 deletion
1003410007	Medial duplication of long arm of chromosome 5
1003411006	Medial duplication of long arm of chromosome 7
1003412004	Medial duplication of long arm of chromosome 2
1003413009	Medial duplication of long arm of chromosome 4
1003414003	Medial duplication of chromosome 14
1003415002	Medial duplication of long arm of chromosome 1
1003416001	Medial duplication of chromosome 13
1003864000	Proximal duplication of long arm of chromosome 5
1003865004	Proximal duplication of long arm of chromosome 6
1003866003	Proximal duplication of long arm of chromosome 3
1003867007	Proximal duplication of long arm of chromosome 4
1003868002	Proximal duplication of long arm of chromosome 18
1003869005	Proximal duplication of long arm of chromosome 2
1003875001	Proximal duplication of long arm of chromosome 17
1003876000	Proximal duplication of long arm of chromosome 12
1003878004	Proximal duplication of long arm of chromosome 16
1003880005	Proximal duplication of long arm of chromosome 10
1003882002	Proximal duplication of long arm of chromosome 11
1003883007	Proximal duplication of short arm of chromosome 9
1003885000	Proximal duplication of short arm of chromosome 7
1003886004	Proximal duplication of short arm of chromosome 8
1003887008	Proximal duplication of short arm of chromosome 3
1003888003	Proximal duplication of short arm of chromosome 6
1003889006	Proximal duplication of short arm of chromosome 2
1003890002	Proximal duplication of long arm of chromosome 9
1003891003	Proximal duplication of short arm of chromosome 1
1003892005	Proximal duplication of long arm of chromosome 7
1003893000	Proximal duplication of long arm of chromosome 8
1003906000	Proximal duplication of long arm of chromosome 1
1003907009	Proximal duplication of chromosome 14
1003908004	Proximal duplication of chromosome 15
1003909007	Proximal duplication of chromosome 13
1010630006	X-linked complicated corpus callosum dysgenesis
10572007	13q partial trisomy syndrome
1089701000000105	Profound intellectual development disorder without impairment of behaviour
1089711000000107	Profound intellectual development disorder with significant impairment of behaviour
1089721000000101	Profound intellectual development disorder with minimal impairment of behaviour
1089731000000104	Profound intellectual development disorder with impairment of behaviour
1089741000000108	Severe intellectual development disorder without significant impairment of behaviour
1089751000000106	Severe intellectual development disorder with significant impairment of behaviour
1089761000000109	Severe intellectual development disorder with minimal impairment of behaviour
1089771000000102	Severe intellectual development disorder with impairment of behaviour
1089781000000100	Moderate intellectual development disorder without significant impairment of behaviour
1089791000000103	Moderate intellectual development disorder with significant impairment of behaviour
1089811000000102	Moderate intellectual development disorder with minimal impairment of behaviour
1089821000000108	Moderate intellectual development disorder with impairment of behaviour
1089831000000105	Mild intellectual development disorder without significant impairment of behaviour
1089841000000101	Mild intellectual development disorder with significant impairment of behaviour
1089851000000103	Mild intellectual development disorder with minimal impairment of behaviour
1093991000000101	Mild intellectual development disorder with impairment of behaviour
1094001000000106	Intellectual development disorder without significant impairment of behaviour
1094011000000108	Intellectual development disorder with significant impairment of behaviour
1094021000000102	Intellectual development disorder with minimal impairment of behaviour
1094031000000100	Intellectual development disorder with impairment of behaviour
109478007	Kohlschutter's syndrome
110359009	Intellectual disability
111309008	8q partial trisomy syndrome
111311004	20p partial trisomy syndrome
1156584007	X-linked intellectual disability hypotonic face syndrome
1162462009	Angelman syndrome due to maternal monosomy 15q11q13
1162463004	Partial duplication of long arm of chromosome 15
1162487002	Duplication of part of short arm of chromosome 16
1162488007	Duplication of part of long arm of chromosome 16
1167371007	Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
1167375003	Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome
1169355000	Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
1169359006	Tall stature, intellectual disability, renal anomalies syndrome
1172594000	Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
1172624000	Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome
1172626003	Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder
1172627007	Early-onset epilepsy, intellectual disability, brain anomalies syndrome
1172629005	Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
1172630000	Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
1172685001	Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
1172691004	Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome
1172697000	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
1172698005	Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
1172889005	Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome
1172899000	Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
1173036000	Combined oxidative phosphorylation defect type 23
1173998003	Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
1177167002	Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
1177169004	Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation
1177175008	Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
1179282009	Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract
1179283004	Metopic ridging, ptosis, facial dysmorphism syndrome
1179301003	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome
1179408008	Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
1186711002	G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome
1186713004	Growth delay, intellectual disability, hepatopathy syndrome
1186721005	Infantile inflammatory bowel disease with neurological involvement
1186729007	Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
1186730002	Gabriele-de Vries syndrome
1186734006	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
1186821000	Developmental academic disorder due to deficiency of micronutrients
1186826005	Developmental academic disorder due to iron deficiency
1186832000	Developmental academic disorder due to iodine deficiency
1187038009	Non-specific syndromic intellectual disability
1187041000	Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
1187042007	Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
1187114007	Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome
1187122000	Witteveen Kolk syndrome
1187195007	Microcephalic cortical malformations, short stature due to rotatin deficiency
1187210007	Intellectual disability, epilepsy, extrapyramidal syndrome
1187247007	WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
1187249005	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy
1187250005	Seizures, scoliosis, macrocephaly syndrome
1187277001	Short stature, brachydactyly, obesity, global developmental delay syndrome
1187278006	Spastic paraplegia, severe developmental delay, epilepsy syndrome
1187303004	Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome
1187304005	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
1187642008	Macrocephaly, intellectual disability, left ventricular non compaction syndrome
1187644009	Basel Vanagaite Smirin Yosef syndrome
1197148005	Sanjad Sakati syndrome
1197588008	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
1197591008	Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
1197593006	Intellectual disability, expressive aphasia, facial dysmorphism syndrome
1208341008	Severe oculo-renal-cerebellar syndrome
1208344000	Fryns Smeets Thiry syndrome
1208481000	Progressive cerebello-cerebral atrophy
1208488006	Special AT-rich sequence-binding protein 2-associated syndrome
1208614008	Autosomal dominant deafness with onychodystrophy syndrome
1208720000	Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
1208727002	Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
1208746001	Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
1208936008	Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome
1208987006	Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
1217228004	X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
1217229007	Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
1217371005	Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome
1217379007	NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy
1217381009	Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome
1217382002	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
1220568003	Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome
1220589007	Keppen Lubinsky syndrome
1220594007	Pierpont syndrome
1220597000	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
1220600004	Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy
1222656005	Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy
1222657001	Prune exopolyphosphatase 1-related neurological syndrome
1222658006	Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
1222672002	3-methylglutaconic aciduria type 9
1222706005	Anterior maxillary protrusion, strabismus, intellectual disability syndrome
1222710008	Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
1228886008	9q33.3q34.11 microdeletion syndrome
1228890005	16p13.2 microdeletion syndrome
1229872004	Xq25 microduplication syndrome
1229873009	17q24.2 microdeletion syndrome
1229875002	9q21.13 microdeletion syndrome
1229882003	11q22.2q22.3 microdeletion syndrome
1229883008	19p13.3 microduplication syndrome
1229891004	20q11.2 microdeletion syndrome
1229895008	8q24.3 microdeletion syndrome
1230273004	Megaconial congenital muscular dystrophy
1230376005	Contactin associated protein 2-related developmental and epileptic encephalopathy
1234830005	14q32 duplication syndrome
1236807002	Encephalopathy due to mitochondrial and peroxisomal fission defect
1239331000000100	Significant intellectual disability
14091009	12p partial trisomy syndrome
1479009	20q partial trisomy
15182000	Coffin-Lowry syndrome
154973004	Learning disability
154974005	Learning disability
17122004	4p partial monosomy syndrome
17827007	Cross syndrome
188601000000100	On learning disability register
192101000000109	On learning disability register
192531005	Learning disability
20348002	14q partial distal trisomy syndrome
205619006	Trisomy 13, meiotic nondisjunction
205620000	Trisomy 13 - mitotic nondisjunction mosaicism
205623003	Trisomy 18 - meiotic nondisjunction
205624009	Trisomy 18 - mitotic nondisjunction mosaicism
205646001	Whole chromosome trisomy syndrome
205647005	Trisomy 6
205648000	Trisomy 7
205649008	Trisomy 8
205650008	Trisomy 9
205651007	Trisomy 10
205652000	Trisomy 11
205653005	Trisomy 12
205655003	Trisomy 22
205657006	Whole chromosome trisomy, mosaicism
205660004	Partial trisomy syndromes
205661000	Major partial trisomy
205662007	Minor partial trisomy
205824006	Noonan's syndrome
21111006	Complete trisomy 13 syndrome
21634003	Borjeson-Forssman-Lehmann syndrome
22497004	9q partial trisomy syndrome
232059000	Laurence-Moon syndrome
234146006	Hennekam lymphangiectasia-lymphedema syndrome
236529001	Prune belly syndrome with pulmonic stenosis, mental retardation and deafness
238047006	Beta-D-mannosidosis
247576004	Learning disability
253176002	Gillespie syndrome
254266000	Partial trisomy 18 in Edward's syndrome
254268004	Partial trisomy 13 in Patau's syndrome
254269007	Whole chromosome trisomy meiotic nondisjunction
254270008	Whole chromosome trisomy - mitotic nondisjunction mosaicism
2593002	Dubowitz's syndrome
26445008	Cat eye syndrome
26480007	11p partial trisomy syndrome
270521004	Trisomy and partial trisomy of autosome
31216003	Profound intellectual disability
33706001	7q partial trisomy
33982008	Hyperphosphatasemia with intellectual disability
35111009	Trisomy X syndrome
35691006	Combined deficiency of sialidase AND beta galactosidase
367332004	Learning disability
389991004	Learning disability
401315004	Smith-Magenis syndrome
40354009	De Lange syndrome
403554008	Oculocerebrocutaneous syndrome
40389006	12q partial trisomy syndrome
40700009	Severe intellectual disability
412787009	Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
416075005	On learning disability register
4199009	18p partial trisomy syndrome
422437002	X-linked intellectual disability with marfanoid habitus
432091002	Savant syndrome
442511009	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
443735008	Nonverbal learning disorder
4874006	11q partial trisomy syndrome
48760005	10p partial trisomy syndrome
48812004	17q partial trisomy syndrome
49024004	4p partial trisomy syndrome
508171000000105	Severe learning disability
508191000000109	Moderate learning disability
50992006	22q partial trisomy
510121000000105	Moderate learning disability
510131000000107	Severe learning disability
51500006	Complete trisomy 18 syndrome
51819009	17p partial trisomy syndrome
526331000000104	Mild learning disability
526341000000108	Profound learning disability
53346000	Complete trisomy 20 syndrome
548004	13p partial trisomy syndrome
554003	2p partial trisomy syndrome
5619004	Bardet-Biedl syndrome
56604005	Cohen syndrome
57917004	Seckel syndrome
59252009	Cutis laxa-corneal clouding-oligophrenia syndrome
5982001	2q partial trisomy syndrome
61152003	Moderate intellectual disability
613003	Fragile X syndrome
65327002	Mucopolysaccharidosis type I-H
66758006	Acrodysostosis
66985009	18q partial trisomy syndrome
68454002	Complete trisomy 8 syndrome
68618008	Rett's disorder
699297004	Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type
699298009	Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type
699311001	22q11.2 duplication syndrome
699316006	Myhre syndrome
699669001	Renpenning syndrome
70173007	5p partial monosomy syndrome
702327009	Monocarboxylate transporter 8 deficiency
702344008	Pitt-Hopkins syndrome
702354007	X-linked intellectual developmental disorder Christianson type
702356009	X-linked intellectual disability-psychosis-macroorchidism syndrome
702357000	Chromosome 2q37 deletion syndrome
702412005	X-linked intellectual deficit-dystonia-dysarthria syndrome
702416008	X-linked intellectual disability Snyder type
702423009	Deafness-dystonia-optic neuronopathy syndrome
702441001	Fatal X-linked ataxia with deafness and loss of vision
702816000	Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
70324008	15q partial trisomy syndrome
703389002	Calcium/calmodulin-dependent serine protein kinase related intellectual disability
703526007	Progressive epilepsy-intellectual disability syndrome Finnish type
703535000	Mowat-Wilson syndrome
709351000000106	Mild learning disability
709361000000109	Profound learning disability
715342005	Alpha thalassemia X-linked intellectual disability syndrome
715409005	Trigonocephaly C syndrome
715428003	Skeletal dysplasia with epilepsy and short stature syndrome
715441004	McDonough syndrome
715628009	Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome
715989002	Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
716024001	Goniodysgenesis with intellectual disability and short stature syndrome
716089008	Craniofacial digital and genital anomalies syndrome
716096005	Hypospadias and intellectual disability syndrome Goldblatt type
716107009	Early onset parkinsonism and intellectual disability syndrome
716112005	Microcephaly with deafness and intellectual disability syndrome
716191002	Alopecia and intellectual disability syndrome
716334004	Intellectual disability and short stature with hand contracture and genital anomaly syndrome
716683005	17q21.31 microduplication syndrome
716706009	Female restricted epilepsy with intellectual disability syndrome
716709002	FRAXE intellectual disability syndrome
716996008	Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome
71703005	Complete trisomy 22 syndrome
717049005	Trisomy 17p
717157006	Trisomy 10p
717222003	Microphthalmia with ankyloblepharon and intellectual disability syndrome
717223008	X-linked epilepsy with learning disability and behavior disorder syndrome
717335009	Mosaic trisomy 8 syndrome
717763008	Chudley Lowry Hoar syndrome
717822006	Goldberg Shprintzen megacolon syndrome
717887003	Biemond syndrome type 2
717913006	Blepharonasofacial malformation syndrome
717945001	Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome
717973004	Chromosome 3q29 duplication syndrome
718226002	Wolf Hirschhorn syndrome
718573009	Achalasia microcephaly syndrome
718577005	X-linked intellectual disability Atkin type
718680001	Oro-facial digital syndrome type 9
718681002	Oro-facial digital syndrome type 11
718689000	Distal trisomy 10q
718719001	Lissencephaly type 3 familial fetal akinesia sequence syndrome
718766002	Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
718845002	X-linked intellectual disability with ataxia and apraxia syndrome
718846001	X-linked intellectual disability Zorick type
718847005	X-linked neurodegenerative syndrome Hamel type
718848000	Fried syndrome
718896000	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
718897009	X-linked intellectual disability Seemanova type
718900002	Syndromic X-linked intellectual disability type 11
718905007	X-linked intellectual disability Shrimpton type
718908009	X-linked intellectual disability Siderius type
718909001	X-linked intellectual disability Stevenson type
718910006	X-linked intellectual disability Stocco Dos Santos type
718911005	X-linked intellectual disability Stoll type
718912003	X-linked intellectual disability Turner type
718914002	X-linked intellectual disability Van Esch type
719009006	X-linked intellectual disability Wilson type
719010001	X-linked intellectual disability Schimke type
719011002	X-linked intellectual disability Pai type
719012009	X-linked intellectual disability Miles Carpenter type
719013004	X-linked intellectual disability Cilliers type
719016007	X-linked intellectual disability Cantagrel type
719017003	X-linked intellectual disability Armfield type
719018008	X-linked intellectual disability Abidi type
719020006	Pallister W syndrome
719042007	Uveal coloboma with cleft lip and palate and intellectual disability syndrome
719046005	12q14 microdeletion syndrome
719069008	Shprintzen Goldberg craniosynostosis syndrome
719097002	Branchioskeletogenital syndrome
719102004	Congenital cataract with ataxia and deafness syndrome
719136005	X-linked intellectual disability with cerebellar hypoplasia syndrome
719137001	X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome
719138006	X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
719139003	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
719140001	X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
719155005	X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
719156006	X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
719157002	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
719160009	Syndromic X-linked intellectual disability type 7
719161008	Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation
719162001	Radioulnar synostosis with microcephaly and scoliosis syndrome
719202006	Spondyloepiphyseal dysplasia tarda Kohn type
719212004	Smith Fineman Myers syndrome
719378009	Microcephalus with brachydactyly and kyphoscoliosis syndrome
719380003	Microcephalus cardiomyopathy syndrome
719396000	Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome
719427001	15q11q13 microduplication syndrome
719450007	Disorder of sex development with intellectual disability syndrome
719466009	Cleft palate with short stature and vertebral anomaly syndrome
719578005	16p13.11 microduplication syndrome
719582007	17p13.3 microduplication syndrome
719583002	17q11.2 microduplication syndrome
719599008	19q13.11 microdeletion syndrome
719600006	1p21.3 microdeletion syndrome
719665003	5q35 microduplication syndrome
719684000	8q12 microduplication syndrome
719800009	Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome
719808002	Chromosome Xp11.3 microdeletion syndrome
719810000	X-linked intellectual disability with seizure and psoriasis syndrome
719811001	X-linked intellectual disability Cabezas type
719812008	X-linked intellectual disability with plagiocephaly syndrome
719825000	X-linked intellectual disability, macrocephaly, macroorchidism syndrome
719826004	X-linked intellectual disability with acromegaly and hyperactivity syndrome
719834005	Wilson Turner syndrome
719842006	Congenital hypoplasia of ulna and intellectual disability syndrome
719909009	Chromosome Xq28 trisomy
719947004	Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome
720401009	Cystic fibrosis with gastritis and megaloblastic anemia syndrome
720468000	Aniridia and intellectual disability syndrome
720501007	Arachnodactyly with abnormal ossification and intellectual disability syndrome
720502000	Arachnodactyly and intellectual disability with facial dysmorphism syndrome
720517001	Ataxia with deafness and intellectual disability syndrome
720523006	Autosomal recessive limb girdle muscular dystrophy type 2K
720573009	Brachymorphism with onychodysplasia and dysphalangism syndrome
720635002	Cerebro-facio-thoracic dysplasia
720639008	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
720746006	Contracture with ectodermal dysplasia and orofacial cleft syndrome
720748007	Aural atresia with multiple congenital anomalies and intellectual disability syndrome
720825005	Cystic leukoencephalopathy without megalencephaly
720855003	Cerebrooculonasal syndrome
720954000	Filippi syndrome
720955004	Fine Lubinsky syndrome
720957007	Deafness with skeletal dysplasia and lip granuloma syndrome
720958002	Frank-Ter Haar syndrome
720979002	Alopecia, contracture, dwarfism, intellectual disability syndrome
720981000	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
720982007	Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
721007005	Hair defect with photosensitivity and intellectual disability syndrome
721008000	Hall Riggs syndrome
721017000	Postaxial polydactyly and intellectual disability syndrome
721073008	Short stature with webbed neck and congenital heart disease syndrome
721086004	Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
721087008	Deafness and intellectual disability Martin Probst type syndrome
721089006	Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
721146009	Intellectual disability, epilepsy, bulbous nose syndrome
721207002	Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
721208007	Ectodermal dysplasia with blindness syndrome
721224008	Holmes Gang syndrome
721841001	Hypogonadism with mitral valve prolapse and intellectual disability syndrome
721843003	Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome
721875000	Juberg Marsidi syndrome
721883006	Radioulnar synostosis with developmental delay and hypotonia syndrome
721973006	Lipodystrophy, intellectual disability, deafness syndrome
721974000	Lowry MacLean syndrome
722002002	Intellectual disability, balding, patella luxation, acromicria syndrome
722003007	Intellectual disability with cataract and kyphosis syndrome
722031003	Kapur Toriello syndrome
722033000	Macrocephaly, short stature, paraplegia syndrome
722035007	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome
722037004	Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
722055008	Oculopalatocerebral syndrome
722056009	Oculocerebrofacial syndrome Kaufman type
722065002	Okamoto syndrome
722075004	Oro-facial digital syndrome type 10
722105002	Oro-facial digital syndrome type 5
722106001	Oro-facial digital syndrome type 8
722107005	Ossification anomaly with psychomotor developmental delay syndrome
722110003	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
722111004	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome
722209002	Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
722213009	Severe X-linked intellectual disability Gustavson type
722281001	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
722282008	Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
722378009	Congenital cataract with deafness and hypogonadism syndrome
722379001	Congenital cataract with hypertrichosis and intellectual disability syndrome
722380003	Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
722429003	Distal limb deficiency with micrognathia syndrome
722430008	Distal trisomy 6p syndrome
722454003	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
722455002	Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome
722456001	Intellectual disability, developmental delay, contracture syndrome
722459008	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
722477003	Toriello Carey syndrome
722478008	Skeletal dysplasia with intellectual disability syndrome
723304001	Microcephaly, seizure, intellectual disability, heart disease syndrome
723332005	Isodicentric chromosome 15 syndrome
723333000	Faciocardiorenal syndrome
723336008	Fallot complex with intellectual disability and growth delay syndrome
723365002	Hypotrichosis and intellectual disability syndrome Lopes type
723403008	Microbrachycephaly, ptosis, cleft lip syndrome
723410002	N syndrome
723441001	Non-progressive cerebellar ataxia with intellectual disability
723454008	Phosphoribosylpyrophosphate synthetase superactivity
723501008	Renier Gabreels Jasper syndrome
723504000	Ramos Arroyo syndrome
723621000	Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
723676007	Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
723994004	Seizures and intellectual disability due to hydroxylysinuria syndrome
724001005	Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
724039002	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
724137002	Macrocephaly, obesity, mental disability, ocular abnormality syndrome
724178000	Laryngeal abductor paralysis with intellectual disability syndrome
724207001	Kleefstra syndrome
724228005	Infantile choroidocerebral calcification syndrome
724564005	Intellectual developmental disorder due to nutritional deficiency
725140007	Temple Baraitser syndrome
725163002	X-linked spasticity, intellectual disability, epilepsy syndrome
725289009	5-amino-4-imidazole carboxamide ribosiduria
725589005	Bullous dystrophy macular type
725906006	Intellectual disability Buenos Aires type
725908007	Neurofaciodigitorenal syndrome
725912001	X-linked intellectual disability Brooks type
726031001	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
726338000	Partial trisomy of chromosome 1
726339008	Partial trisomy of short arm of chromosome 1
726340005	Partial trisomy of chromosome 2
726341009	Partial trisomy of chromosome 3
726342002	Partial trisomy of chromosome 4
726343007	Partial trisomy of chromosome 5
726344001	Partial trisomy of long arm of chromosome 5
726345000	Partial trisomy of chromosome 6
726346004	Partial trisomy of chromosome 7
726347008	Partial trisomy of chromosome 8
726348003	Partial trisomy of chromosome 9
726349006	Partial trisomy of chromosome 10
726350006	Partial trisomy of chromosome 11
726351005	Partial trisomy of chromosome 12
726352003	Partial trisomy of chromosome 13
726353008	Partial trisomy of chromosome 14
726354002	Partial trisomy of chromosome 15
726355001	Partial trisomy of chromosome 16
726356000	Partial trisomy of chromosome 17
726357009	Partial trisomy of chromosome 18
726358004	Partial trisomy of chromosome 19
726359007	Partial trisomy of short arm of chromosome 19
726360002	Partial trisomy of chromosome 20
726362005	Partial trisomy of chromosome 22
726621009	Caudal appendage deafness syndrome
726669007	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
726670008	Weaver Williams syndrome
726672000	Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
726706008	4p16.3 microduplication syndrome
726707004	7q11.23 microduplication syndrome
726709001	Intellectual disability, cataract, calcified pinna, myopathy syndrome
726727003	X-linked intellectual disability Hedera type
726732002	X-linked intellectual disability Nascimento type
73035005	10q partial trisomy syndrome
732246009	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
732251003	Cortical blindness, intellectual disability, polydactyly syndrome
732954002	Osteopenia, intellectual disability, sparse hair syndrome
732957009	Brachydactyly and preaxial hallux varus syndrome
732958004	Spastic paraplegia with precocious puberty syndrome
732961003	Branchial dysplasia, intellectual disability, inguinal hernia syndrome
733031004	Epilepsy, microcephaly, skeletal dysplasia syndrome
733032006	Epilepsy telangiectasia syndrome
733049004	Encephalopathy, intracerebral calcification, retinal degeneration syndrome
733050004	Dysmorphism, short stature, deafness, disorder of sex development syndrome
733062000	Marfanoid habitus with autosomal recessive intellectual disability syndrome
733072002	Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
733086003	Pseudoprogeria syndrome
733088002	Preaxial polydactyly, colobomata, intellectual disability syndrome
733090001	Microcephalus, digital anomaly, intellectual disability syndrome
733097003	Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
733110004	Van den Bosch syndrome
733116005	Aniridia, renal agenesis, psychomotor retardation syndrome
733117001	Thumb stiffness, brachydactyly, intellectual disability syndrome
733417008	Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
733419006	Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
733455003	Spastic paraplegia, glaucoma, intellectual disability syndrome
733472005	Microcephalus, glomerulonephritis, marfanoid habitus syndrome
733473000	16p13.3 microduplication syndrome
733518000	16p11.2p12.2 microduplication syndrome
733522005	Megalocornea with intellectual disability syndrome
734016004	17p11.2 microduplication syndrome
734017008	Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
734173003	Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome
734349003	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
74008005	Partial trisomy of short arm of chromosome 5
74263009	Carpenter syndrome
74350000	Complete trisomy 9 syndrome
7586009	14q partial trisomy
75893003	19q partial trisomy syndrome
763061004	20q11.2 microduplication syndrome
763136000	Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
763186006	Grubben, De Cock, Borghgraef syndrome
763272003	Distal trisomy 2q
763273008	Distal trisomy 4q
763274002	Distal trisomy 5q syndrome
763275001	Distal trisomy 6q
763276000	Distal trisomy 7p syndrome
763277009	Distal trisomy 8q
763278004	Facial dysmorphism, cleft palate, loose skin syndrome
763320005	Craniofaciofrontodigital syndrome
763344007	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
763350002	Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
763353000	Cerebrofacioarticular syndrome
763404001	Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
763615003	Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
763618001	Wiedemann Steiner syndrome
763626009	Intellectual disability due to nutritional deficiency
763665007	Craniodigital syndrome and intellectual disability syndrome
763722004	Hypotonia, speech impairment, severe cognitive delay syndrome
763741001	Intellectual disability, alacrima, achalasia syndrome
763742008	Intellectual disability, polydactyly, uncombable hair syndrome
763743003	Intellectual disability, spasticity, ectrodactyly syndrome
763744009	Intellectual disability, brachydactyly, Pierre Robin syndrome
763745005	Intellectual disability Wolff type
763773007	Macrocephaly and developmental delay syndrome
763795006	Malan overgrowth syndrome
763797003	Agenesis of corpus callosum and abnormal genitalia syndrome
763837007	Oro-facial digital syndrome type 14
763861000	Pachygyria, intellectual disability, epilepsy syndrome
764435003	17q12 microduplication syndrome
764447009	Distal trisomy 11q
764454003	Distal trisomy 13q
764455002	Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
764459008	Distal trisomy 16q
764461004	Mosaic trisomy 10 syndrome
764463001	Mosaic trisomy 12 syndrome
764466009	Mosaic trisomy 14 syndrome
76447002	6q partial trisomy syndrome
764500002	Distal trisomy 20q syndrome
764512003	Distal trisomy 22q syndrome
764518004	Distal trisomy 2p
764519007	Distal trisomy 3p
764520001	Distal trisomy 9q
764524005	Distal 22q11.2 microduplication syndrome
764619001	Mosaic trisomy 15 syndrome
764621006	Mosaic trisomy 16 syndrome
764622004	Mosaic trisomy 17 syndrome
764623009	Mosaic trisomy 2 syndrome
764624003	Mosaic trisomy 20 syndrome
764625002	Mosaic trisomy 22 syndrome
764627005	Mosaic trisomy 3 syndrome
764628000	Mosaic trisomy 4 syndrome
764629008	Mosaic trisomy 5 syndrome
764630003	Mosaic trisomy 7 syndrome
764703002	7p22.1 microduplication syndrome
764732004	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
764861005	Intellectual disability Birk-Barel type
764950001	Cryptorchidism, arachnodactyly, intellectual disability syndrome
764959000	Intellectual disability, myopathy, short stature, endocrine defect syndrome
764989007	Mosaic trisomy 9 syndrome
764996009	Non-distal trisomy 13q
764997000	Non-distal trisomy 9q
765089003	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
765140006	8p23.1 duplication syndrome
765142003	Proximal 16p11.2 microduplication syndrome
765170001	Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy
765434008	Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
765471005	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
765758008	Microcephalic primordial dwarfism Montreal type
765761009	Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
766051001	Distal trisomy 17q syndrome
766052008	Distal trisomy 19q syndrome
766053003	Distal trisomy 1p36 syndrome
766753005	Nijmegen breakage syndrome-like disorder
766816008	2q23.1 microduplication syndrome
766824003	Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder
766870005	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
766871009	Diencephalic mesencephalic junction dysplasia
768473009	Purine rich element binding protein A syndrome
768677000	Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability
768713003	15q13.3 microduplication syndrome
76880004	Angelman syndrome
768843007	Tall stature, intellectual disability, facial dysmorphism syndrome
768927001	Trisomy 1q syndrome
768929003	Trisomy 8p syndrome
768930008	Partial trisomy of short arm of chromosome 8
768931007	Partial trisomy of long arm of chromosome 1
770401007	10q22.3q23.3 microdeletion syndrome
770404004	Autosomal recessive chorioretinopathy and microcephaly syndrome
770411000	Distal monosomy 19p13.3
770431001	Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation
770564004	Microcephalic primordial dwarfism Alazami type
770565003	Microcephalic primordial dwarfism Dauber type
770566002	Monosomy 13q14 syndrome
770595006	Ring chromosome 12 syndrome
770604006	X-linked cerebral, cerebellar, coloboma syndrome
770663003	Tetrasomy 11q24.1
770666006	Non-distal trisomy 10q
770678005	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
770679002	Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome
770719004	3q27.3 microdeletion syndrome
770721009	Microcephaly, thin corpus callosum, intellectual disability syndrome
770723007	Optic atrophy, intellectual disability syndrome
770725000	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
770750002	Intellectual disability, seizures, macrocephaly, obesity syndrome
770751003	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
770755007	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
770756008	2p13.2 microdeletion syndrome
770790004	Developmental delay with autism spectrum disorder and gait instability
770793002	5p13 microduplication syndrome
770794008	11p15.4 microduplication syndrome
770898002	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
770901001	Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
770907002	Kagami Ogata syndrome
770908007	49,XXXYY syndrome
770941005	Alopecia, progressive neurological defect, endocrinopathy syndrome
770948004	Rhizomelic syndrome Urbach type
771072001	Monosomy 9p
771074000	Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
771077007	Intellectual disability, short stature, hypertelorism syndrome
771148008	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
771149000	Hepatic fibrosis, renal cyst, intellectual disability syndrome
771179007	Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
771262009	Pseudoleprechaunism syndrome Patterson type
771336003	Polymicrogyria with optic nerve hypoplasia
771337007	1q21.1 microduplication syndrome
771341006	14q11.2 microduplication syndrome
771448004	Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
771470001	Jawad syndrome
771472009	Developmental and speech delay due to SRY-box 5 deficiency
771476007	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
771477003	15q overgrowth syndrome
771512003	Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency
772127009	White Sutton syndrome
772224009	Warburg micro syndrome
772225005	RAB18, member RAS oncogene family deficiency
77269002	Complete trisomy 16 syndrome
77287004	Borderline intellectual disability
773230003	Cyclin-dependent kinase-like 5 deficiency
773274001	X-linked intellectual disability, craniofacioskeletal syndrome
773303005	Spondyloepimetaphyseal dysplasia Genevieve type
773307006	Zechi Ceide syndrome
773325004	Distal 7q11.23 microduplication syndrome
773329005	CK syndrome
773394007	Autosomal recessive frontotemporal pachygyria
773400009	Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome
773404000	Roifman syndrome
773405004	Intellectual disability with strabismus syndrome
773416006	Intellectual disability, facial dysmorphism, hand anomalies syndrome
773418007	Xylosyltransferase 1 congenital disorder of glycosylation
773419004	Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome
773493002	9q31.1q31.3 microdeletion syndrome
773494008	14q24.1q24.3 microdeletion syndrome
773498006	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
773547003	13q12.3 microdeletion syndrome
773548008	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
773551001	Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome
773552008	Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
773553003	Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
773554009	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
773556006	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
773581009	Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
773583007	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
773587008	X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
773621003	Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome
773665006	Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
773670004	Distal Xq28 microduplication syndrome
773692000	Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
773699009	Pitt Hopkins-like syndrome
773735007	Deafness with onychodystrophy syndrome
773769008	Ataxia, photosensitivity, short stature syndrome
773772001	Rare non-syndromic intellectual disability
773984007	Piebald trait with neurologic defects syndrome
774068004	AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
774070008	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome
774102003	Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome
774149004	Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
774203000	Intellectual disability, severe speech delay, mild dysmorphism syndrome
77497005	3p partial trisomy syndrome
77527000	9p partial trisomy syndrome
776204008	Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
777998000	Temtamy preaxial brachydactyly syndrome
778009001	Blepharophimosis, intellectual disability syndrome, Verloes type
778011005	Severe intellectual disability and progressive spastic paraplegia
778025006	Atypical hypotonia cystinuria syndrome
778073001	3q26 microduplication syndrome
780827006	Synaptic Ras GTPase activating protein 1- related intellectual disability
782669004	10q22.3q23.3 microduplication syndrome
782676009	Distal trisomy 18q
782723007	Severe intellectual disability, progressive spastic diplegia syndrome
782736007	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
782753000	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
782755007	Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome
782757004	Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
782772000	Congenital muscular dystrophy with intellectual disability and severe epilepsy
782886007	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
782911008	Hereditary cryohydrocytosis with reduced stomatin
782941005	Richieri Costa-da Silva syndrome
782945001	Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome
783005002	Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
783061008	Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
783089006	Macrocephaly, intellectual disability, autism syndrome
783174004	Congenital muscular dystrophy with intellectual disability
783562005	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
783619003	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
783702009	X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations
783703004	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
785298001	Muscle eye brain disease with bilateral multicystic leukodystrophy
785726009	Hyperekplexia epilepsy syndrome
787093004	Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency
787171006	21q22.11q22.12 microdeletion syndrome
787174003	Intellectual disability, hyperkinetic movement, truncal ataxia syndrome
787175002	Ankyrin 3 related intellectual disability, sleep disturbance syndrome
788417006	Alopecia, epilepsy, intellectual disability syndrome Moynahan type
788584007	Blepharophimosis, intellectual disability syndrome
79385002	Lowe syndrome
80651009	Aicardi's syndrome
816067005	Diabetes, hypogonadism, deafness, intellectual disability syndrome
82751009	7p partial trisomy
829974003	Mosaic trisomy 1 syndrome
83585001	14q partial proximal trisomy syndrome
83721006	6p partial trisomy syndrome
838441009	Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome
86765009	Mild intellectual disability
879919001	Bilateral megalencephaly
879937000	Alpha-N-acetylgalactosaminidase deficiency type 1
879939002	14q32 deletion syndrome
880065001	Alpha-N-acetylgalactosaminidase deficiency type 2
880066000	Alpha-N-acetylgalactosaminidase deficiency type 3
880079009	11p15 duplication syndrome
880081006	12q15 deletion syndrome
88894000	4q partial trisomy syndrome
889211000000104	Specific learning disability
890110004	17q23.1-q23.2 duplication syndrome
890116005	17q24-qter duplication syndrome
890118006	Mowat-Wilson syndrome due to monosomy 2q22
890123006	3p25.3 deletion syndrome
890130000	9q34 deletion syndrome
890221004	Acrocardiofacial syndrome
890285006	Bilateral frontal polymicrogyria
890286007	Bilateral frontoparietal polymicrogyria
890433006	Cockayne syndrome type 1
890434000	Cockayne syndrome type 2
89392001	Prader-Willi syndrome
897507003	Distal trisomy 9p
897509000	Distal trisomy 8p
897510005	Distal trisomy 3q
897511009	Distal trisomy 7q
897543009	Distal trisomy 1p
897544003	Distal trisomy 1q
897546001	Distal trisomy 12q
897547005	Distal duplication of chromosome 14
897548000	Distal duplication of chromosome 15
897549008	Distal duplication of chromosome 13
90866007	3q partial trisomy syndrome
931001000000105	Significant learning disability
9527009	Tetrasomy 12p syndrome
954731000000103	Intellectual development disorder of unknown aetiology
984661000000105	Mild learning disability
984671000000103	Moderate learning disability
984681000000101	Profound learning disability

This page shows the search terms that were used to build the codelist. Concepts that match the search terms, but which were excluded, are in faint grey.

downs

Included 0 out of 33 matching concepts.

Show matching concepts

(Relative - mental handicap) or ([Downs] or [Mongol] child in family) (160950003)
Complete trisomy 21 syndrome (41040004)
Dementia co-occurrent and due to Down syndrome (733194007)
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (840505007)
Down's screening - blood test (268474007)
Downs screen - blood test (& [Barts] or [triple] or [double]) (147018001)
Downs screen - blood test (& [Barts] or [triple] or [double]) (169788000)
Downs screening test (144415002)
Downs screening test (998681000000109)
Downs screening test (167177009)
Downs screening test (315115008)
Downs syndrome antenatal screening information leaflet given (766481000000101)
Downs syndrome antenatal screening information leaflet given (766491000000104)
Downslipped innominate (417200003)
Downsloping (263743007)
Downstairs (224711002)
Downstream (103365002)
Indoor toilet downstairs (920671000000103)
Mongol child (context-dependent category) (275143003)
Myeloid leukemia co-occurrent with Down syndrome (724644005)
Periodontitis co-occurrent with Down syndrome (709469005)
Superior to inferior ventricular relationship (728671000000105)
Superior to inferior ventricular relationship (448477005)
Suspect trisomy 21 fetus (415683005)
Suspected Downs syndrome (95191000000101)
Suspected Downs syndrome (100061000000106)
Suspected Downs syndrome (408338009)
Toilet downstairs (920661000000105)
Toilet downstairs (715203008)
Transient abnormal myelopoiesis co-occurrent with Down syndrome (724643004)
Translocation Down syndrome (371045000)
Trisomy 21- meiotic nondisjunction (205615000)
Trisomy 21- mitotic nondisjunction mosaicism (205616004)

learning disability

Included 536 out of 630 matching concepts.

Show matching concepts

11p15.4 microduplication syndrome (770794008)
11q22.2q22.3 microdeletion syndrome (1229882003)
12q14 microdeletion syndrome (719046005)
13q12.3 microdeletion syndrome (773547003)
14q24.1q24.3 microdeletion syndrome (773494008)
14q32 deletion syndrome (879939002)
15q overgrowth syndrome (771477003)
16p13.2 microdeletion syndrome (1228890005)
17q11.2 microduplication syndrome (719583002)
17q24.2 microdeletion syndrome (1229873009)
19p13.3 microduplication syndrome (1229883008)
19q13.11 microdeletion syndrome (719599008)
1p21.3 microdeletion syndrome (719600006)
20q11.2 microdeletion syndrome (1229891004)
21q22.11q22.12 microdeletion syndrome (787171006)
2p13.2 microdeletion syndrome (770756008)
3-methylglutaconic aciduria type 9 (1222672002)
3q27.3 microdeletion syndrome (770719004)
5-amino-4-imidazole carboxamide ribosiduria (725289009)
5p13 microduplication syndrome (770793002)
8q24.3 microdeletion syndrome (1229895008)
9q21.13 microdeletion syndrome (1229875002)
9q31.1q31.3 microdeletion syndrome (773493002)
9q33.3q34.11 microdeletion syndrome (1228886008)
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (774068004)
Achalasia microcephaly syndrome (718573009)
Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (766824003)
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (722281001)
Agenesis of corpus callosum and abnormal genitalia syndrome (763797003)
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (722282008)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (1208720000)
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (733072002)
Alopecia and intellectual disability syndrome (716191002)
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (720981000)
Alopecia, contracture, dwarfism, intellectual disability syndrome (720979002)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type (788417006)
Alopecia, progressive neurological defect, endocrinopathy syndrome (770941005)
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (734349003)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (720982007)
Angelman syndrome (76880004)
Angelman syndrome due to maternal monosomy 15q11q13 (1162462009)
Aniridia and intellectual disability syndrome (720468000)
Aniridia, renal agenesis, psychomotor retardation syndrome (733116005)
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (787175002)
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (1222706005)
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (763615003)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (773583007)
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (720502000)
Arachnodactyly with abnormal ossification and intellectual disability syndrome (720501007)
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (1172624000)
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (1220600004)
Assessment using learning disability screening questionnaire (787751000000101)
Ataxia with deafness and intellectual disability syndrome (720517001)
Ataxia, photosensitivity, short stature syndrome (773769008)
Atypical hypotonia cystinuria syndrome (778025006)
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (720748007)
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (771448004)
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (771512003)
Autosomal dominant deafness with onychodystrophy syndrome (1208614008)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (773498006)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (770898002)
Autosomal recessive chorioretinopathy and microcephaly syndrome (770404004)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (1186734006)
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (770901001)
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (771476007)
Bardet-Biedl syndrome (5619004)
Basel Vanagaite Smirin Yosef syndrome (1187644009)
Biemond syndrome type 2 (717887003)
Blepharonasofacial malformation syndrome (717913006)
Blepharophimosis, intellectual disability syndrome (788584007)
Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (699298009)
Blepharophimosis, intellectual disability syndrome, Verloes type (778009001)
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (699297004)
Borderline intellectual disability (77287004)
Borjeson-Forssman-Lehmann syndrome (21634003)
Brachydactyly and preaxial hallux varus syndrome (732957009)
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (765761009)
Brachymorphism with onychodysplasia and dysphalangism syndrome (720573009)
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (717945001)
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (1169355000)
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (732961003)
Branchioskeletogenital syndrome (719097002)
Bullous dystrophy macular type (725589005)
CK syndrome (773329005)
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (703389002)
Caregiver of a person with learning disability (413761004)
Carer of a person with learning disability (175181000000102)
Carer of a person with learning disability (170521000000104)
Caudal appendage deafness syndrome (726621009)
Cause of learning disability (518831000000103)
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (726669007)
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (763344007)
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (726031001)
Cerebro-facio-thoracic dysplasia (720635002)
Cerebrofacioarticular syndrome (763353000)
Cerebrooculonasal syndrome (720855003)
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (763136000)
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (1172691004)
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (1179408008)
Chromosome Xp11.3 microdeletion syndrome (719808002)
Cleft palate with short stature and vertebral anomaly syndrome (719466009)
Coffin-Siris syndrome (10007009)
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (764455002)
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (720639008)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (776204008)
Combined oxidative phosphorylation defect type 23 (1173036000)
Community learning disability care plan (962351000000107)
Community learning disability nursing (827671000000107)
Congenital cataract with ataxia and deafness syndrome (719102004)
Congenital cataract with deafness and hypogonadism syndrome (722378009)
Congenital cataract with hypertrichosis and intellectual disability syndrome (722379001)
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (715989002)
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (722380003)
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (1177169004)
Congenital hypoplasia of ulna and intellectual disability syndrome (719842006)
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (1208936008)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (1172594000)
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (782757004)
Congenital muscular dystrophy with intellectual disability (783174004)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (782772000)
Contactin associated protein 2-related developmental and epileptic encephalopathy (1230376005)
Contracture with ectodermal dysplasia and orofacial cleft syndrome (720746006)
Cortical blindness, intellectual disability, polydactyly syndrome (732251003)
Craniodigital syndrome and intellectual disability syndrome (763665007)
Craniofacial digital and genital anomalies syndrome (716089008)
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (719947004)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (1217229007)
Craniofaciofrontodigital syndrome (763320005)
Cross syndrome (17827007)
Cryptorchidism, arachnodactyly, intellectual disability syndrome (764950001)
Cutis laxa-corneal clouding-oligophrenia syndrome (59252009)
Cyclin-dependent kinase-like 5 deficiency (773230003)
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (720401009)
Cystic leukoencephalopathy without megalencephaly (720825005)
Deafness and intellectual disability Martin Probst type syndrome (721087008)
Deafness with onychodystrophy syndrome (773735007)
Deafness with skeletal dysplasia and lip granuloma syndrome (720957007)
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (721086004)
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (719800009)
Deafness-dystonia-optic neuronopathy syndrome (702423009)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (721089006)
Developmental academic disorder (1855002)
Developmental academic disorder due to deficiency of micronutrients (1186821000)
Developmental academic disorder due to iodine deficiency (1186832000)
Developmental academic disorder due to iron deficiency (1186826005)
Developmental academic disorder due to nutritional stunting (1186823002)
Developmental and speech delay due to SRY-box 5 deficiency (771472009)
Developmental arithmetic disorder (47916000)
Developmental delay with autism spectrum disorder and gait instability (770790004)
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (787093004)
Developmental expressive writing disorder (45677003)
Developmental reading disorder (52824009)
Diabetes, hypogonadism, deafness, intellectual disability syndrome (816067005)
Died in learning disability unit (928321000000105)
Died in learning disability unit (965481000000102)
Died in learning disability unit (945681000000108)
Died in learning disability unit (713050009)
Diencephalic mesencephalic junction dysplasia (766871009)
Discharge from learning disability team (117181000000102)
Discharge from learning disability team (413128002)
Discharge from learning disability team (121921000000100)
Disorder of sex development with intellectual disability syndrome (719450007)
Distal Xq28 microduplication syndrome (773670004)
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (1179301003)
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (783619003)
Dysmorphism, short stature, deafness, disorder of sex development syndrome (733050004)
Early onset parkinsonism and intellectual disability syndrome (716107009)
Early-onset epilepsy, intellectual disability, brain anomalies syndrome (1172627007)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (770431001)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (773548008)
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome (1187042007)
Ectodermal dysplasia with blindness syndrome (721208007)
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (734017008)
Emergency hospital admission to learning disability service (1082381000000105)
Encephalopathy due to mitochondrial and peroxisomal fission defect (1236807002)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (733049004)
Enhanced/Intensive Support for learning disability (1084471000000108)
Epilepsy telangiectasia syndrome (733032006)
Epilepsy, microcephaly, skeletal dysplasia syndrome (733031004)
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (766870005)
Excepted from learning disability quality indicators - informed dissent (716441000000105)
Excepted from learning disability quality indicators - patient unsuitable (716451000000108)
Excepted from learning disability quality indicators: informed dissent (526741000000107)
Excepted from learning disability quality indicators: informed dissent (526751000000105)
Excepted from learning disability quality indicators: patient unsuitable (526761000000108)
Excepted from learning disability quality indicators: patient unsuitable (526771000000101)
Exception reporting - learning disability quality indicators (717271000000102)
Exception reporting: learning disability quality indicators (526701000000109)
Excluded from diabetic retinopathy screening as learning disability (374841000000109)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (771179007)
FRAXE intellectual disability syndrome (716709002)
Facial dysmorphism, cleft palate, loose skin syndrome (763278004)
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (783061008)
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (733417008)
Faciocardiorenal syndrome (723333000)
Fallot complex with intellectual disability and growth delay syndrome (723336008)
Family history of learning disability (275102003)
Family history of learning disability (308491000000100)
Family history of learning disability (308911000000104)
Fatal X-linked ataxia with deafness and loss of vision (702441001)
Father with learning disability (720436008)
Female restricted epilepsy with intellectual disability syndrome (716706009)
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (774070008)
Filippi syndrome (720954000)
Fine Lubinsky syndrome (720955004)
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (765089003)
Fragile X syndrome (613003)
Fried syndrome (718848000)
Fryns Smeets Thiry syndrome (1208344000)
G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (1186711002)
Gabriele-de Vries syndrome (1186730002)
Gillespie syndrome (253176002)
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (1222658006)
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (1172630000)
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (1220568003)
Goldberg Shprintzen megacolon syndrome (717822006)
Goniodysgenesis with intellectual disability and short stature syndrome (716024001)
Growth delay, intellectual disability, hepatopathy syndrome (1186713004)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (721843003)
Grubben, De Cock, Borghgraef syndrome (763186006)
Hair defect with photosensitivity and intellectual disability syndrome (721007005)
Hall Riggs syndrome (721008000)
Hennekam lymphangiectasia-lymphedema syndrome (234146006)
Hepatic fibrosis, renal cyst, intellectual disability syndrome (771149000)
Hereditary cryohydrocytosis with reduced stomatin (782911008)
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (765434008)
Hyperekplexia epilepsy syndrome (785726009)
Hyperphosphatasemia with intellectual disability (33982008)
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (721841001)
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (773553003)
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (716996008)
Hypospadias and intellectual disability syndrome Goldblatt type (716096005)
Hypotonia, speech impairment, severe cognitive delay syndrome (763722004)
Hypotrichosis and intellectual disability syndrome Lopes type (723365002)
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (763404001)
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (733097003)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (770725000)
Infantile choroidocerebral calcification syndrome (724228005)
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (1217371005)
Infantile inflammatory bowel disease with neurological involvement (1186721005)
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (782886007)
Intellectual development disorder of unknown aetiology (954731000000103)
Intellectual development disorder with impairment of behaviour (1094031000000100)
Intellectual development disorder with minimal impairment of behaviour (1094021000000102)
Intellectual development disorder with significant impairment of behaviour (1094011000000108)
Intellectual development disorder without significant impairment of behaviour (1094001000000106)
Intellectual developmental disorder due to nutritional deficiency (724564005)
Intellectual disability (110359009)
Intellectual disability Birk-Barel type (764861005)
Intellectual disability Buenos Aires type (725906006)
Intellectual disability Wolff type (763745005)
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (716334004)
Intellectual disability due to nutritional deficiency (763626009)
Intellectual disability with cataract and kyphosis syndrome (722003007)
Intellectual disability with strabismus syndrome (773405004)
Intellectual disability, alacrima, achalasia syndrome (763741001)
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (1217382002)
Intellectual disability, balding, patella luxation, acromicria syndrome (722002002)
Intellectual disability, brachydactyly, Pierre Robin syndrome (763744009)
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (1186729007)
Intellectual disability, cataract, calcified pinna, myopathy syndrome (726709001)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (782753000)
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (412787009)
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome (773581009)
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (722454003)
Intellectual disability, developmental delay, contracture syndrome (722456001)
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (722035007)
Intellectual disability, epilepsy, bulbous nose syndrome (721146009)
Intellectual disability, epilepsy, extrapyramidal syndrome (1187210007)
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (722037004)
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (1197593006)
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (782736007)
Intellectual disability, facial dysmorphism, hand anomalies syndrome (773416006)
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (773552008)
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (787174003)
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (722455002)
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (773621003)
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (1208746001)
Intellectual disability, myopathy, short stature, endocrine defect syndrome (764959000)
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome (763350002)
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (774102003)
Intellectual disability, polydactyly, uncombable hair syndrome (763742008)
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (1177167002)
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (770755007)
Intellectual disability, seizures, macrocephaly, obesity syndrome (770750002)
Intellectual disability, severe speech delay, mild dysmorphism syndrome (774203000)
Intellectual disability, short stature, hypertelorism syndrome (771077007)
Intellectual disability, spasticity, ectrodactyly syndrome (763743003)
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (715628009)
Isodicentric chromosome 15 syndrome (723332005)
Jawad syndrome (771470001)
Juberg Marsidi syndrome (721875000)
Kagami Ogata syndrome (770907002)
Kapur Toriello syndrome (722031003)
Keppen Lubinsky syndrome (1220589007)
Kleefstra syndrome (724207001)
Kohlschutter's syndrome (109478007)
Laryngeal abductor paralysis with intellectual disability syndrome (724178000)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (773692000)
Laurence-Moon syndrome (232059000)
Learning Disability and Communication Therapy Outcome Measure activity score (1061551000000104)
Learning Disability and Communication Therapy Outcome Measure carer wellbeing score (1061561000000101)
Learning Disability and Communication Therapy Outcome Measure impairment score (1061571000000108)
Learning Disability and Communication Therapy Outcome Measure participation score (1061581000000105)
Learning Disability and Communication Therapy Outcome Measure wellbeing score (1061591000000107)
Learning disability (247576004)
Learning disability (192531005)
Learning disability (389991004)
Learning disability (154973004)
Learning disability (367332004)
Learning disability (154974005)
Learning disability - specialty (408468001)
Learning disability annual health check invitation (520801000000100)
Learning disability annual health check invitation email (1083091000000103)
Learning disability annual health check invitation first letter (712781000000107)
Learning disability annual health check invitation first letter (712791000000109)
Learning disability annual health check invitation second letter (712801000000108)
Learning disability annual health check invitation second letter (712811000000105)
Learning disability annual health check invitation short message service text message (1083061000000109)
Learning disability annual health check invitation third letter (712831000000102)
Learning disability annual health check invitation third letter (712821000000104)
Learning disability annual health check letter invitation (521421000000100)
Learning disability annual health check telephone invitation (520841000000102)
Learning disability annual health check verbal invitation (520821000000109)
Learning disability care plan (962361000000105)
Learning disability excluded (984051000000100)
Learning disability excluded (984061000000102)
Learning disability health assessment invitation (520811000000103)
Learning disability health assessment letter invitation (521431000000103)
Learning disability health assessment telephone invitation (520851000000104)
Learning disability health assessment verbal invitation (520831000000106)
Learning disability health examination (381201000000100)
Learning disability health examination (381221000000109)
Learning disability health examination (381211000000103)
Learning disability microarray comprehensive genetic test (925021000000101)
Learning disability microarray targeted genetic test (925011000000107)
Learning disability nursing (828341000000106)
Learning disability screening questionnaire (787721000000106)
Learning disability screening questionnaire declined (814011000000108)
Learning disability screening questionnaire score (787761000000103)
Learning disability service (892581000000104)
Lipodystrophy, intellectual disability, deafness syndrome (721973006)
Lowe syndrome (79385002)
Lowry MacLean syndrome (721974000)
Macrocephaly and developmental delay syndrome (763773007)
Macrocephaly, intellectual disability, autism syndrome (783089006)
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (1187642008)
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (1187304005)
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (724137002)
Macrocephaly, short stature, paraplegia syndrome (722033000)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (1172685001)
Malan overgrowth syndrome (763795006)
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (722459008)
Marfanoid habitus with autosomal recessive intellectual disability syndrome (733062000)
Maternal learning disability (1035381000000108)
Maternal learning disability (1035391000000105)
McDonough syndrome (715441004)
Megaconial congenital muscular dystrophy (1230273004)
Megalocornea with intellectual disability syndrome (733522005)
Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome (838441009)
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (733419006)
Metopic ridging, ptosis, facial dysmorphism syndrome (1179283004)
Microbrachycephaly, ptosis, cleft lip syndrome (723403008)
Microcephalic cortical malformations, short stature due to rotatin deficiency (1187195007)
Microcephalic primordial dwarfism Alazami type (770564004)
Microcephalic primordial dwarfism Dauber type (770565003)
Microcephalic primordial dwarfism Montreal type (765758008)
Microcephalus cardiomyopathy syndrome (719380003)
Microcephalus with brachydactyly and kyphoscoliosis syndrome (719378009)
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (764732004)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (733472005)
Microcephaly with deafness and intellectual disability syndrome (716112005)
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (1167375003)
Microcephaly, seizure, intellectual disability, heart disease syndrome (723304001)
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (771074000)
Microcephaly, thin corpus callosum, intellectual disability syndrome (770721009)
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (1187114007)
Microphthalmia with ankyloblepharon and intellectual disability syndrome (717222003)
Mild intellectual development disorder with impairment of behaviour (1093991000000101)
Mild intellectual development disorder with minimal impairment of behaviour (1089851000000103)
Mild intellectual development disorder with significant impairment of behaviour (1089841000000101)
Mild intellectual development disorder without significant impairment of behaviour (1089831000000105)
Mild intellectual disability (86765009)
Mild learning disability (984661000000105)
Mild learning disability (526331000000104)
Mild learning disability (709351000000106)
Mixed disorder of scholastic skills (192575009)
Moderate intellectual development disorder with impairment of behaviour (1089821000000108)
Moderate intellectual development disorder with minimal impairment of behaviour (1089811000000102)
Moderate intellectual development disorder with significant impairment of behaviour (1089791000000103)
Moderate intellectual development disorder without significant impairment of behaviour (1089781000000100)
Moderate intellectual disability (61152003)
Moderate learning disability (984671000000103)
Moderate learning disability (510121000000105)
Moderate learning disability (508191000000109)
Monocarboxylate transporter 8 deficiency (702327009)
Mowat-Wilson syndrome (703535000)
Mowat-Wilson syndrome due to monosomy 2q22 (890118006)
Muscle eye brain disease with bilateral multicystic leukodystrophy (785298001)
Myhre syndrome (699316006)
N syndrome (723410002)
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (1217379007)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (1217381009)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (1222710008)
Neurofaciodigitorenal syndrome (725908007)
Nijmegen breakage syndrome-like disorder (766753005)
Non-progressive cerebellar ataxia with intellectual disability (723441001)
Non-specific syndromic intellectual disability (1187038009)
Nonverbal learning disorder (443735008)
Oculocerebrofacial syndrome Kaufman type (722056009)
Oculopalatocerebral syndrome (722055008)
Okamoto syndrome (722065002)
On learning disability register (416075005)
On learning disability register (192101000000109)
On learning disability register (188601000000100)
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (782945001)
Optic atrophy, intellectual disability syndrome (770723007)
Oro-facial digital syndrome type 10 (722075004)
Oro-facial digital syndrome type 11 (718681002)
Oro-facial digital syndrome type 14 (763837007)
Oro-facial digital syndrome type 5 (722105002)
Oro-facial digital syndrome type 8 (722106001)
Oro-facial digital syndrome type 9 (718680001)
Ossification anomaly with psychomotor developmental delay syndrome (722107005)
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (722110003)
Osteopenia, intellectual disability, sparse hair syndrome (732954002)
Pachygyria, intellectual disability, epilepsy syndrome (763861000)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (1172889005)
Pallister W syndrome (719020006)
Paternal learning disability (1035341000000100)
Paternal learning disability (1035351000000102)
People with learning disability (721651000000109)
People with learning disability - National Public Health Classification (332171000000101)
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (1172899000)
Phosphoribosylpyrophosphate synthetase superactivity (723454008)
Piebald trait with neurologic defects syndrome (773984007)
Pierpont syndrome (1220594007)
Pitt-Hopkins syndrome (702344008)
Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (1208987006)
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (1167371007)
Polymicrogyria with optic nerve hypoplasia (771336003)
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (770679002)
Postaxial polydactyly and intellectual disability syndrome (721017000)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (1173998003)
Preaxial polydactyly, colobomata, intellectual disability syndrome (733088002)
Preferred place of care - learning disability unit (518661000000109)
Preferred place of care - learning disability unit (518671000000102)
Preferred place of death: learning disability unit (518741000000100)
Preferred place of death: learning disability unit (518751000000102)
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (782755007)
Profound intellectual development disorder with impairment of behaviour (1089731000000104)
Profound intellectual development disorder with minimal impairment of behaviour (1089721000000101)
Profound intellectual development disorder with significant impairment of behaviour (1089711000000107)
Profound intellectual development disorder without impairment of behaviour (1089701000000105)
Profound intellectual disability (31216003)
Profound learning disability (984681000000101)
Profound learning disability (709361000000109)
Profound learning disability (526341000000108)
Progressive cerebello-cerebral atrophy (1208481000)
Progressive epilepsy-intellectual disability syndrome Finnish type (703526007)
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (1187303004)
Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (768677000)
Prune belly syndrome with pulmonic stenosis, mental retardation and deafness (236529001)
Prune exopolyphosphatase 1-related neurological syndrome (1222657001)
Pseudoleprechaunism syndrome Patterson type (771262009)
Pseudoprogeria syndrome (733086003)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (724039002)
Purine rich element binding protein A syndrome (768473009)
RAB18, member RAS oncogene family deficiency (772225005)
Radioulnar synostosis with developmental delay and hypotonia syndrome (721883006)
Radioulnar synostosis with microcephaly and scoliosis syndrome (719162001)
Ramos Arroyo syndrome (723504000)
Rare non-syndromic intellectual disability (773772001)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (1172698005)
Referral to learning disability team (413127007)
Referral to learning disability team (117091000000104)
Referral to learning disability team (121831000000107)
Renpenning syndrome (699669001)
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (724001005)
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (1220597000)
Rett's disorder (68618008)
Richieri Costa-da Silva syndrome (782941005)
Roifman syndrome (773404000)
Sanjad Sakati syndrome (1197148005)
Savant syndrome (432091002)
Seckel syndrome (57917004)
Seen by learning disability team (965601000000105)
Seen by learning disability team (716569003)
Seen by learning disability team (938591000000100)
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (721207002)
Seizures and intellectual disability due to hydroxylysinuria syndrome (723994004)
Seizures, scoliosis, macrocephaly syndrome (1187250005)
Severe X-linked intellectual disability Gustavson type (722213009)
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (773400009)
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (1172629005)
Severe intellectual development disorder with impairment of behaviour (1089771000000102)
Severe intellectual development disorder with minimal impairment of behaviour (1089761000000109)
Severe intellectual development disorder with significant impairment of behaviour (1089751000000106)
Severe intellectual development disorder without significant impairment of behaviour (1089741000000108)
Severe intellectual disability (40700009)
Severe intellectual disability and progressive spastic paraplegia (778011005)
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (1208727002)
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (723676007)
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (1197591008)
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (773551001)
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (774149004)
Severe intellectual disability, progressive spastic diplegia syndrome (782723007)
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (773419004)
Severe learning disability (508171000000105)
Severe learning disability (510131000000107)
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (783005002)
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (770751003)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (1179282009)
Severe oculo-renal-cerebellar syndrome (1208341008)
Short stature with webbed neck and congenital heart disease syndrome (721073008)
Short stature, brachydactyly, obesity, global developmental delay syndrome (1187277001)
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (726672000)
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (773556006)
Shprintzen Goldberg craniosynostosis syndrome (719069008)
Significant intellectual disability (1239331000000100)
Significant learning disability (931001000000105)
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (734173003)
Skeletal dysplasia with epilepsy and short stature syndrome (715428003)
Skeletal dysplasia with intellectual disability syndrome (722478008)
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (1177175008)
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (765170001)
Spastic paraplegia with precocious puberty syndrome (732958004)
Spastic paraplegia, glaucoma, intellectual disability syndrome (733455003)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (722209002)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (1187278006)
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (723621000)
Special AT-rich sequence-binding protein 2-associated syndrome (1208488006)
Specific learning disability (889211000000104)
Specific learning disability (889221000000105)
Specific number difficulty (359661001)
Specific reading disorder (192136006)
Specific spelling disorder (268738002)
Spondyloepimetaphyseal dysplasia Genevieve type (773303005)
Spondyloepiphyseal dysplasia tarda Kohn type (719202006)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (718766002)
Stopping Over-Medication of People with Learning Disability, Autism or Both medication review (1106111000000108)
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (1187041000)
Synaptic Ras GTPase activating protein 1- related intellectual disability (780827006)
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (1222656005)
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (719161008)
Syndromic X-linked intellectual disability type 11 (718900002)
Syndromic X-linked intellectual disability type 7 (719160009)
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (773554009)
Tall stature, intellectual disability, facial dysmorphism syndrome (768843007)
Tall stature, intellectual disability, renal anomalies syndrome (1169359006)
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (1172626003)
Temple Baraitser syndrome (725140007)
Temtamy preaxial brachydactyly syndrome (777998000)
Tetrasomy 12p syndrome (9527009)
Thumb stiffness, brachydactyly, intellectual disability syndrome (733117001)
Toriello Carey syndrome (722477003)
Trigonocephaly C syndrome (715409005)
Trisomy 10p (717157006)
Under care of community learning disability team (870651000000103)
Under care of community learning disability team (990931000000100)
Under care of learning disability team (1366181000000109)
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (719042007)
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (1187249005)
Van den Bosch syndrome (733110004)
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (1187247007)
Warburg micro syndrome (772224009)
Weaver Williams syndrome (726670008)
White Sutton syndrome (772127009)
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (783703004)
Wiedemann Steiner syndrome (763618001)
Wilson Turner syndrome (719834005)
Witteveen Kolk syndrome (1187122000)
Wolf Hirschhorn syndrome (718226002)
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (719139003)
X-linked cerebral, cerebellar, coloboma syndrome (770604006)
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (771148008)
X-linked complicated corpus callosum dysgenesis (1010630006)
X-linked epilepsy with learning disability and behavior disorder syndrome (717223008)
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (1172697000)
X-linked intellectual deficit-dystonia-dysarthria syndrome (702412005)
X-linked intellectual developmental disorder Christianson type (702354007)
X-linked intellectual disability Abidi type (719018008)
X-linked intellectual disability Armfield type (719017003)
X-linked intellectual disability Atkin type (718577005)
X-linked intellectual disability Brooks type (725912001)
X-linked intellectual disability Cabezas type (719811001)
X-linked intellectual disability Cantagrel type (719016007)
X-linked intellectual disability Cilliers type (719013004)
X-linked intellectual disability Hedera type (726727003)
X-linked intellectual disability Miles Carpenter type (719012009)
X-linked intellectual disability Nascimento type (726732002)
X-linked intellectual disability Pai type (719011002)
X-linked intellectual disability Schimke type (719010001)
X-linked intellectual disability Seemanova type (718897009)
X-linked intellectual disability Shrimpton type (718905007)
X-linked intellectual disability Siderius type (718908009)
X-linked intellectual disability Snyder type (702416008)
X-linked intellectual disability Stevenson type (718909001)
X-linked intellectual disability Stocco Dos Santos type (718910006)
X-linked intellectual disability Stoll type (718911005)
X-linked intellectual disability Turner type (718912003)
X-linked intellectual disability Van Esch type (718914002)
X-linked intellectual disability Wilson type (719009006)
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (719155005)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (719157002)
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (783702009)
X-linked intellectual disability hypotonic face syndrome (1156584007)
X-linked intellectual disability with acromegaly and hyperactivity syndrome (719826004)
X-linked intellectual disability with ataxia and apraxia syndrome (718845002)
X-linked intellectual disability with cerebellar hypoplasia syndrome (719136005)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (719138006)
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (719140001)
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (719156006)
X-linked intellectual disability with marfanoid habitus (422437002)
X-linked intellectual disability with plagiocephaly syndrome (719812008)
X-linked intellectual disability with seizure and psoriasis syndrome (719810000)
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (773587008)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (1217228004)
X-linked intellectual disability, craniofacioskeletal syndrome (773274001)
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (765471005)
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (732246009)
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (719825000)
X-linked intellectual disability-psychosis-macroorchidism syndrome (702356009)
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (1197588008)
X-linked neurodegenerative syndrome Hamel type (718847005)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (718896000)
X-linked spasticity, intellectual disability, epilepsy syndrome (725163002)
Xq25 microduplication syndrome (1229872004)
Xylosyltransferase 1 congenital disorder of glycosylation (773418007)
Zechi Ceide syndrome (773307006)

trisomy 21

Included 0 out of 23 matching concepts.

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(Down's syndrome - trisomy 21) or (mongolism) or (trisomy 21) or (trisomy 22) (205614001)
Antenatal screening blood test for complete trisomy 21, complete trisomy 18 and complete trisomy 13 syndromes (747731000000104)
Antenatal screening combined ultrasound and blood test for complete trisomy 21 syndrome done (1128831000000104)
Antenatal screening combined ultrasound and blood test for complete trisomy 21, complete trisomy 18 and complete trisomy 13 syndromes done (1128861000000109)
Complete trisomy 21 syndrome (41040004)
Dementia co-occurrent and due to Down syndrome (733194007)
Distal duplication of chromosome 21 (897545002)
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (840505007)
Down's syndrome NOS (254263008)
Down's syndrome NOS (702711000000103)
Family history of complete trisomy 21 syndrome (281022002)
Fetus with complete trisomy 21 syndrome (125501000119105)
Myeloid leukemia co-occurrent with Down syndrome (724644005)
Non-invasive prenatal testing for complete trisomy 21 syndrome screening (1127291000000103)
Partial trisomy 21 in Down's syndrome (254264002)
Partial trisomy 21 in Down's syndrome (205617008)
Suspect trisomy 21 fetus (415683005)
Transient abnormal myelopoiesis co-occurrent with Down syndrome (724643004)
Translocation Down syndrome (371045000)
Trisomy 21 (737542000)
Trisomy 21 in amniotic fetal cell (168118008)
Trisomy 21- meiotic nondisjunction (205615000)
Trisomy 21- mitotic nondisjunction mosaicism (205616004)

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learning disability

trisomy 21