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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
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability est un(e) (attribut) True Intellectual disability Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Allan-Herndon-Dudley syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Christianson syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Combined oxidative phosphorylation defect type 23 est un(e) (attribut) True Intellectual disability Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) True Intellectual disability Inferred relationship Some
Metopic ridging, ptosis, facial dysmorphism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Growth delay, intellectual disability, hepatopathy syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Gabriele-de Vries syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Non-specific syndromic intellectual disability est un(e) (attribut) True Intellectual disability Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Witteveen Kolk syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy est un(e) (attribut) True Intellectual disability Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Sanjad Sakati syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
SATB2-associated syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Pierpont syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy est un(e) (attribut) True Intellectual disability Inferred relationship Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
9q33.3q34.11 microdeletion syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
16p13.2 microdeletion syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Xq25 microduplication syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
17q24.2 microdeletion syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
9q21.13 microdeletion syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
11q22.2q22.3 microdeletion syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
19p13.3 microduplication syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
20q11.2 microdeletion syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Megaconial congenital muscular dystrophy est un(e) (attribut) True Intellectual disability Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy est un(e) (attribut) True Intellectual disability Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome de Bardet-Biedl est un(e) (attribut) True Intellectual disability Inferred relationship Some
Coffin-Siris syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
déficience intellectuelle profonde (trouble) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hyperphosphatasaemia with intellectual disability est un(e) (attribut) True Intellectual disability Inferred relationship Some
déficience intellectuelle grave (trouble) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
déficience intellectuelle moyenne (trouble) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Rett's disorder est un(e) (attribut) True Intellectual disability Inferred relationship Some
Borderline intellectual disability (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
déficience intellectuelle légère (trouble) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Kohlschutter's syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Laurence-Moon syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Savant syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Renpenning syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Pitt-Hopkins syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
PPM-X syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Chromosome 2q37 deletion syndrome est un(e) (attribut) False Intellectual disability Inferred relationship Some
Partington syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Snyder-Robinson syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Neuronal ceroid lipofuscinosis 8 est un(e) (attribut) True Intellectual disability Inferred relationship Some
Mowat-Wilson syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some

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