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110359009: Intellectual disability (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
175156010 Intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2715379015 Intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642975016 Intellectual developmental disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

485 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Intellectual disability est un(e) (attribut) troubles mentaux du développement true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome de Jawad est un(e) (attribut) True Intellectual disability Inferred relationship Some
Developmental and speech delay due to SRY-box 5 deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency est un(e) (attribut) True Intellectual disability Inferred relationship Some
15q overgrowth syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
White Sutton syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Cyclin-dependent kinase-like 5 deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability, craniofacioskeletal syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
dysplasie spondylo-épimétaphysaire type Geneviève est un(e) (attribut) True Intellectual disability Inferred relationship Some
Zechi Ceide syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
CK syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Roifman syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability with strabismus syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
9q31.1q31.3 microdeletion syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
13q12.3 microdeletion syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
14q24.1q24.3 microdeletion syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Distal Xq28 microduplication syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
déficience intellectuelle non syndromique rare est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Deafness with onychodystrophy syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Piebald trait with neurologic defects syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Temtamy preaxial brachydactyly syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Atypical hypotonia cystinuria syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
SYNGAP1-related intellectual disability est un(e) (attribut) True Intellectual disability Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hereditary cryohydrocytosis with reduced stomatin est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Richieri Costa-da Silva syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital muscular dystrophy with intellectual disability est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations est un(e) (attribut) True Intellectual disability Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
21q22.11q22.12 microdeletion syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome de prune belly avec sténose pulmonaire, arriération mentale et surdité est un(e) (attribut) True Intellectual disability Inferred relationship Some
Arts syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Cross syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hennekam syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Gillespie syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
nanisme à tête d'oiseau est un(e) (attribut) True Intellectual disability Inferred relationship Some
Fragile X syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Angelman syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Lowe syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type est un(e) (attribut) True Intellectual disability Inferred relationship Some
Blepharophimosis, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Woodhouse Sakati syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Myhre syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
14q32 deletion syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
tétrasomie 12p (trouble) est un(e) (attribut) True Intellectual disability Inferred relationship Some
N syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
RERE-related neurodevelopmental syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some

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