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1362108000: Genetic intellectual disability (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5444307014 Genetic intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444308016 Genetic intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

538 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic intellectual disability Is a Intellectual disability true Inferred relationship Some
Genetic intellectual disability Is a Genetic disease true Inferred relationship Some
Genetic intellectual disability Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Genetic intellectual disability Interprets Intellectual ability (observable entity) true Inferred relationship Some 1
Genetic intellectual disability Has interpretation Impaired true Inferred relationship Some 1
Genetic intellectual disability Interprets Adaptation behavior (observable entity) true Inferred relationship Some 2
Genetic intellectual disability Has interpretation Impaired true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Angelman syndrome Is a True Genetic intellectual disability Inferred relationship Some
Lowe syndrome Is a True Genetic intellectual disability Inferred relationship Some
Rett syndrome Is a True Genetic intellectual disability Inferred relationship Some
Seckel syndrome Is a True Genetic intellectual disability Inferred relationship Some
de Barsey syndrome Is a True Genetic intellectual disability Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a True Genetic intellectual disability Inferred relationship Some
Hyperphosphatasaemia with intellectual disability Is a True Genetic intellectual disability Inferred relationship Some
Bardet-Biedl syndrome Is a True Genetic intellectual disability Inferred relationship Some
Fragile X syndrome Is a True Genetic intellectual disability Inferred relationship Some
Amelocerebrohypohidrotic syndrome Is a True Genetic intellectual disability Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Dysequilibrium syndrome Is a True Genetic intellectual disability Inferred relationship Some
Laurence-Moon syndrome Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Myhre syndrome Is a True Genetic intellectual disability Inferred relationship Some
Renpenning syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Genetic intellectual disability Inferred relationship Some
Pitt-Hopkins syndrome Is a True Genetic intellectual disability Inferred relationship Some
Christianson syndrome Is a True Genetic intellectual disability Inferred relationship Some
PPM-X syndrome Is a True Genetic intellectual disability Inferred relationship Some
Partington syndrome Is a True Genetic intellectual disability Inferred relationship Some
Snyder-Robinson syndrome Is a True Genetic intellectual disability Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Arts syndrome Is a True Genetic intellectual disability Inferred relationship Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Northern epilepsy Is a False Genetic intellectual disability Inferred relationship Some
Mowat-Wilson syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephalic primordial dwarfism Dauber type Is a True Genetic intellectual disability Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
3q27.3 microdeletion syndrome Is a False Genetic intellectual disability Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Optic atrophy, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a True Genetic intellectual disability Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Genetic intellectual disability Inferred relationship Some
2p13.2 microdeletion syndrome Is a True Genetic intellectual disability Inferred relationship Some
Developmental delay with autism spectrum disorder and gait instability (disorder) Is a True Genetic intellectual disability Inferred relationship Some
11p15.4 microduplication syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Grubben, De Cock, Borghgraef syndrome Is a True Genetic intellectual disability Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Wiedemann Steiner syndrome Is a True Genetic intellectual disability Inferred relationship Some
Craniodigital syndrome and intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a True Genetic intellectual disability Inferred relationship Some
Macrocephaly and developmental delay syndrome Is a True Genetic intellectual disability Inferred relationship Some
Malan overgrowth syndrome Is a True Genetic intellectual disability Inferred relationship Some
Agenesis of corpus callosum and abnormal genitalia syndrome Is a True Genetic intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 14 Is a True Genetic intellectual disability Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Genetic intellectual disability Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Genetic intellectual disability Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Diencephalic mesencephalic junction dysplasia (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia Is a True Genetic intellectual disability Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Jawad syndrome Is a True Genetic intellectual disability Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency Is a True Genetic intellectual disability Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, craniofacioskeletal syndrome Is a True Genetic intellectual disability Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Zechi Ceide syndrome Is a True Genetic intellectual disability Inferred relationship Some
CK syndrome Is a True Genetic intellectual disability Inferred relationship Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a True Genetic intellectual disability Inferred relationship Some
Roifman syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability with strabismus syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation Is a True Genetic intellectual disability Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Genetic intellectual disability Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a True Genetic intellectual disability Inferred relationship Some

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