Wider Learning Disability



Coding system
SNOMED CT
Organisation
PRIMIS Covid Vaccination Uptake Reporting
Codelist ID
primis-covid19-vacc-uptake/learndis
Tag
v1
ID
26d90652

Versions
  • v1

Description

Taken from the LEARNDIS_COD field in SARS-CoV2 COVID19 Vaccination Uptake Reporting Codes 20_21 v1, published by PRIMIS.

© PRIMIS - the University of Nottingham 2021

code term
10007009 Coffin-Siris 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
1239331000000100 Significant intellectual disability
17827007 Cross syndrome
205615000 Trisomy 21- meiotic nondisjunction
205619006 Trisomy 13, meiotic nondisjunction
205620000 Trisomy 13 - mitotic nondisjunction mosaicism
205623003 Trisomy 18 - meiotic nondisjunction
205624009 Trisomy 18 - mitotic nondisjunction mosaicism
21111006 Complete trisomy 13 syndrome
21634003 Borjeson-Forssman-Lehmann syndrome
232059000 Laurence-Moon syndrome
234146006 Hennekam lymphangiectasia-lymphedema syndrome
236529001 Prune belly syndrome with pulmonic stenosis, mental retardation and deafness
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
31216003 Profound intellectual disability
33982008 Hyperphosphatasemia with intellectual disability
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
432091002 Savant syndrome
508171000000105 Severe learning disability
51500006 Complete trisomy 18 syndrome
5619004 Bardet-Biedl syndrome
57917004 Seckel syndrome
59252009 Cutis laxa-corneal clouding-oligophrenia syndrome
61152003 Moderate intellectual disability
613003 Fragile X syndrome
68618008 Rett's disorder
699297004 Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type
699298009 Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type
699316006 Myhre syndrome
699669001 Renpenning syndrome
702344008 Pitt-Hopkins syndrome
702356009 X-linked intellectual disability-psychosis-macroorchidism syndrome
702412005 X-linked intellectual deficit-dystonia-dysarthria syndrome
702416008 X-linked intellectual disability Snyder type
702441001 Fatal X-linked ataxia with deafness and loss of vision
702816000 Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
703389002 Calcium/calmodulin-dependent serine protein kinase related intellectual disability
703526007 Progressive epilepsy-intellectual disability syndrome Finnish type
703535000 Mowat-Wilson syndrome
709469005 Periodontitis co-occurrent with Down 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
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
717157006 Trisomy 10p
717222003 Microphthalmia with ankyloblepharon and intellectual disability syndrome
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
717913006 Blepharonasofacial malformation syndrome
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
718845002 X-linked intellectual disability with ataxia and apraxia syndrome
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
719101006 Carpenter Waziri syndrome
719102004 Congenital cataract with ataxia and deafness syndrome
719136005 X-linked intellectual disability with cerebellar hypoplasia 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
719450007 Disorder of sex development with intellectual disability syndrome
719466009 Cleft palate with short stature and vertebral anomaly syndrome
719583002 17q11.2 microduplication syndrome
719599008 19q13.11 microdeletion syndrome
719600006 1p21.3 microdeletion 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 syndrome
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
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
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
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
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
724643004 Transient abnormal myelopoiesis co-occurrent with Down syndrome
724644005 Myeloid leukemia co-occurrent with Down 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
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
726709001 Intellectual disability, cataract, calcified pinna, myopathy syndrome
726727003 X-linked intellectual disability Hedera type
726732002 X-linked intellectual disability Nascimento type
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
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
733194007 Dementia co-occurrent and due to Down 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
733522005 Megalocornea with intellectual disability 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
763136000 Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
763186006 Grubben, De Cock, Borghgraef syndrome
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
764455002 Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia 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
765089003 Focal epilepsy, intellectual disability, cerebro-cerebellar malformation 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
766753005 Nijmegen breakage syndrome-like disorder
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
76880004 Angelman syndrome
768843007 Tall stature, intellectual disability, facial dysmorphism syndrome
770404004 Autosomal recessive chorioretinopathy and microcephaly syndrome
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
770604006 X-linked cerebral, cerebellar, coloboma 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
770941005 Alopecia, progressive neurological defect, endocrinopathy syndrome
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
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
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
773329005 CK syndrome
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
773578004 Spondylocostal dysostosis, hypospadias, 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
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
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
780827006 Synaptic Ras GTPase activating protein 1- related intellectual disability
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
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 and mental retardation syndrome
79385002 Lowe 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
889211000000104 Specific learning disability
931001000000105 Significant learning disability
984661000000105 Mild learning disability
984671000000103 Moderate learning disability
984681000000101 Profound learning disability

Codes not in the full codelist are in faint grey.