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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
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome Is a True Genetic intellectual disability Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
RERE-related neurodevelopmental syndrome Is a True Genetic intellectual disability Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Genetic intellectual disability Inferred relationship Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Genetic intellectual disability Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Genetic intellectual disability Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Genetic intellectual disability Inferred relationship Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Is a True Genetic intellectual disability Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Gabriele-de Vries syndrome Is a True Genetic intellectual disability Inferred relationship Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a True Genetic intellectual disability Inferred relationship Some
Growth delay, intellectual disability, hepatopathy syndrome Is a True Genetic intellectual disability Inferred relationship Some
Non-specific syndromic intellectual disability Is a True Genetic intellectual disability Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Genetic intellectual disability Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Genetic intellectual disability Inferred relationship Some
Witteveen Kolk syndrome Is a True Genetic intellectual disability Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Genetic intellectual disability Inferred relationship Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy Is a True Genetic intellectual disability Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Genetic intellectual disability Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a True Genetic intellectual disability Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Genetic intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Genetic intellectual disability Inferred relationship Some
Metopic ridging, ptosis, facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Sanjad Sakati syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Fryns Smeets Thiry syndrome Is a True Genetic intellectual disability Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) Is a True Genetic intellectual disability Inferred relationship Some
SATB2-associated syndrome Is a True Genetic intellectual disability Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Genetic intellectual disability Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Genetic intellectual disability Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
NDE1-related microhydranencephaly Is a True Genetic intellectual disability Inferred relationship Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Lamb Shaffer syndrome Is a True Genetic intellectual disability Inferred relationship Some
Coffin-Lowry syndrome Is a True Genetic intellectual disability Inferred relationship Some
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Genetic intellectual disability Inferred relationship Some
Short stature, developmental delay, congenital heart defect syndrome Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Genetic intellectual disability Inferred relationship Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Genetic intellectual disability Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Menke Hennekam syndrome Is a True Genetic intellectual disability Inferred relationship Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
WARS2-related combined oxidative phosphorylation defect Is a True Genetic intellectual disability Inferred relationship Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Is a True Genetic intellectual disability Inferred relationship Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Genetic intellectual disability Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Genetic intellectual disability Inferred relationship Some
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder Is a True Genetic intellectual disability Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome Is a True Genetic intellectual disability Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Genetic intellectual disability Inferred relationship Some
Keppen Lubinsky syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Pierpont syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy Is a True Genetic intellectual disability Inferred relationship Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Genetic intellectual disability Inferred relationship Some
3-methylglutaconic aciduria type 9 Is a True Genetic intellectual disability Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some

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