QT - LD
Codelist metadata
- 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
- 5078b562
- Number of codes included
- 433
About
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 |
| 1003387003 | Molybdenum cofactor deficiency complementation group C |
| 1003389000 | Mosaic 1q duplication |
| 1003409002 | Maternal 15q11q13 deletion |
| 1010630006 | X-linked complicated corpus callosum dysgenesis |
| 1035381000000108 | Maternal learning disability |
| 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 |
| 1156584007 | X-linked intellectual disability hypotonic face syndrome |
| 1229872004 | Xq25 microduplication syndrome |
| 1229883008 | 19p13.3 microduplication syndrome |
| 1239331000000100 | Significant intellectual disability |
| 15182000 | Coffin-Lowry syndrome |
| 154973004 | Learning disability |
| 154974005 | Learning disability |
| 17122004 | 4p partial monosomy syndrome |
| 17827007 | Cross syndrome |
| 192531005 | Learning disability |
| 205615000 | Trisomy 21- meiotic nondisjunction |
| 205616004 | Trisomy 21- mitotic nondisjunction mosaicism |
| 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 |
| 205660004 | Partial trisomy syndromes |
| 205661000 | Major partial trisomy |
| 205824006 | Noonan's syndrome |
| 21111006 | Complete trisomy 13 syndrome |
| 21634003 | Borjeson-Forssman-Lehmann syndrome |
| 232059000 | Laurence-Moon syndrome |
| 234146006 | Hennekam lymphangiectasia-lymphedema syndrome |
| 238047006 | Beta-D-mannosidosis |
| 247576004 | Learning disability |
| 253176002 | Gillespie syndrome |
| 254264002 | Partial trisomy 21 in Down's syndrome |
| 254266000 | Partial trisomy 18 in Edward's syndrome |
| 254268004 | Partial trisomy 13 in Patau's syndrome |
| 254269007 | Whole chromosome trisomy meiotic nondisjunction |
| 2593002 | Dubowitz's syndrome |
| 270521004 | Trisomy and partial trisomy of autosome |
| 31216003 | Profound intellectual disability |
| 33982008 | Hyperphosphatasemia with intellectual disability |
| 35111009 | Trisomy X syndrome |
| 35691006 | Combined deficiency of sialidase AND beta galactosidase |
| 367332004 | Learning disability |
| 371045000 | Translocation Down syndrome |
| 389991004 | Learning disability |
| 401315004 | Smith-Magenis syndrome |
| 40354009 | De Lange syndrome |
| 403554008 | Oculocerebrocutaneous syndrome |
| 40700009 | Severe intellectual disability |
| 41040004 | Complete trisomy 21 syndrome |
| 412787009 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth |
| 416075005 | On learning disability register |
| 422437002 | X-linked intellectual disability with marfanoid habitus |
| 442511009 | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome |
| 49024004 | 4p partial trisomy syndrome |
| 508171000000105 | Severe learning disability |
| 508191000000109 | Moderate learning disability |
| 510121000000105 | Moderate learning disability |
| 510131000000107 | Severe learning disability |
| 51500006 | Complete trisomy 18 syndrome |
| 526341000000108 | Profound learning disability |
| 548004 | 13p partial trisomy syndrome |
| 5619004 | Bardet-Biedl syndrome |
| 56604005 | Cohen syndrome |
| 57917004 | Seckel syndrome |
| 59252009 | Cutis laxa-corneal clouding-oligophrenia syndrome |
| 61152003 | Moderate intellectual disability |
| 65327002 | Mucopolysaccharidosis type I-H |
| 66758006 | Acrodysostosis |
| 68618008 | Rett's disorder |
| 699297004 | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type |
| 699298009 | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type |
| 699669001 | Renpenning syndrome |
| 70173007 | 5p partial monosomy syndrome |
| 702327009 | Monocarboxylate transporter 8 deficiency |
| 702344008 | Pitt-Hopkins syndrome |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 716709002 | FRAXE intellectual disability syndrome |
| 716996008 | Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome |
| 717157006 | Trisomy 10p |
| 717223008 | X-linked epilepsy with learning disability and behavior disorder syndrome |
| 717763008 | Chudley Lowry Hoar syndrome |
| 717822006 | Goldberg Shprintzen megacolon syndrome |
| 717887003 | Biemond syndrome type 2 |
| 717945001 | Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia 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 |
| 718766002 | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome |
| 718846001 | X-linked intellectual disability Zorick type |
| 718848000 | Fried 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 |
| 719069008 | Shprintzen Goldberg craniosynostosis syndrome |
| 719097002 | Branchioskeletogenital 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 |
| 719157002 | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome |
| 719160009 | Syndromic X-linked intellectual disability type 7 |
| 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 |
| 719578005 | 16p13.11 microduplication syndrome |
| 719582007 | 17p13.3 microduplication syndrome |
| 719583002 | 17q11.2 microduplication syndrome |
| 719599008 | 19q13.11 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 |
| 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 |
| 720517001 | Ataxia with deafness and intellectual disability syndrome |
| 720523006 | Autosomal recessive limb girdle muscular dystrophy type 2K |
| 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 |
| 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 |
| 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 |
| 721875000 | Juberg Marsidi 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 |
| 722065002 | Okamoto 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 |
| 722379001 | Congenital cataract with hypertrichosis and intellectual disability syndrome |
| 722380003 | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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 |
| 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 |
| 723441001 | Non-progressive cerebellar ataxia with intellectual disability |
| 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 |
| 724137002 | Macrocephaly, obesity, mental disability, ocular abnormality syndrome |
| 724207001 | Kleefstra syndrome |
| 724228005 | Infantile choroidocerebral calcification syndrome |
| 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 |
| 726341009 | Partial trisomy of chromosome 3 |
| 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 |
| 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 |
| 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 |
| 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 |
| 734349003 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
| 74263009 | Carpenter syndrome |
| 763061004 | 20q11.2 microduplication syndrome |
| 763136000 | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
| 763186006 | Grubben, De Cock, Borghgraef syndrome |
| 763320005 | Craniofaciofrontodigital syndrome |
| 763350002 | Intellectual disability, obesity, brain malformation, facial dysmorphism 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 |
| 764463001 | Mosaic trisomy 12 syndrome |
| 764524005 | Distal 22q11.2 microduplication syndrome |
| 764703002 | 7p22.1 microduplication syndrome |
| 764861005 | Intellectual disability Birk-Barel type |
| 764950001 | Cryptorchidism, arachnodactyly, intellectual disability syndrome |
| 764959000 | Intellectual disability, myopathy, short stature, endocrine defect syndrome |
| 765089003 | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation 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 |
| 765761009 | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
| 766753005 | Nijmegen breakage syndrome-like disorder |
| 766816008 | 2q23.1 microduplication syndrome |
| 766870005 | Epiphyseal dysplasia, hearing loss, dysmorphism syndrome |
| 766871009 | Diencephalic mesencephalic junction dysplasia |
| 768677000 | Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability |
| 768713003 | 15q13.3 microduplication syndrome |
| 76880004 | Angelman syndrome |
| 770401007 | 10q22.3q23.3 microdeletion 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 |
| 770566002 | Monosomy 13q14 syndrome |
| 770595006 | Ring chromosome 12 syndrome |
| 770663003 | Tetrasomy 11q24.1 |
| 770678005 | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome |
| 770679002 | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome |
| 770719004 | 3q27.3 microdeletion syndrome |
| 770750002 | Intellectual disability, seizures, macrocephaly, obesity syndrome |
| 770755007 | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
| 770793002 | 5p13 microduplication syndrome |
| 770794008 | 11p15.4 microduplication syndrome |
| 770901001 | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
| 770907002 | Kagami Ogata syndrome |
| 770908007 | 49,XXXYY syndrome |
| 770948004 | Rhizomelic syndrome Urbach type |
| 771072001 | Monosomy 9p |
| 771149000 | Hepatic fibrosis, renal cyst, intellectual disability syndrome |
| 771262009 | Pseudoleprechaunism syndrome Patterson type |
| 771336003 | Polymicrogyria with optic nerve hypoplasia |
| 771337007 | 1q21.1 microduplication syndrome |
| 771341006 | 14q11.2 microduplication syndrome |
| 771472009 | Developmental and speech delay due to SRY-box 5 deficiency |
| 771512003 | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency |
| 772127009 | White Sutton syndrome |
| 773230003 | Cyclin-dependent kinase-like 5 deficiency |
| 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 |
| 773405004 | Intellectual disability with strabismus syndrome |
| 773419004 | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome |
| 773498006 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency |
| 773581009 | Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
| 773665006 | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
| 773670004 | Distal Xq28 microduplication syndrome |
| 773699009 | Pitt Hopkins-like syndrome |
| 773769008 | Ataxia, photosensitivity, short stature syndrome |
| 773772001 | Rare non-syndromic intellectual disability |
| 774068004 | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
| 778011005 | Severe intellectual disability and progressive spastic paraplegia |
| 778073001 | 3q26 microduplication syndrome |
| 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 |
| 782772000 | Congenital muscular dystrophy with intellectual disability and severe epilepsy |
| 782886007 | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
| 782941005 | Richieri Costa-da Silva syndrome |
| 782945001 | Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
| 783005002 | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
| 783174004 | Congenital muscular dystrophy with intellectual disability |
| 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 |
| 787093004 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
| 788417006 | Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
| 79385002 | Lowe syndrome |
| 80651009 | Aicardi's syndrome |
| 816067005 | Diabetes, hypogonadism, deafness, intellectual disability syndrome |
| 838441009 | Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome |
| 840505007 | Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis |
| 86765009 | Mild intellectual disability |
| 879919001 | Bilateral megalencephaly |
| 879937000 | Alpha-N-acetylgalactosaminidase deficiency type 1 |
| 880065001 | Alpha-N-acetylgalactosaminidase deficiency type 2 |
| 880066000 | Alpha-N-acetylgalactosaminidase deficiency type 3 |
| 880081006 | 12q15 deletion syndrome |
| 889211000000104 | Specific learning disability |
| 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 |
| 931001000000105 | Significant learning disability |
| 984661000000105 | Mild learning disability |
| 984671000000103 | Moderate learning disability |
| 984681000000101 | Profound learning disability |