247573007: Intellectual ability (observable entity)

SNOMED CT Concept\Observable entity\Function (observable entity)\Nervous system function\Mental function (observable entity)\Cognitive functions\Characteristic of intellect\Intellectual ability (observable entity)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual ability (observable entity)	Is a	Characteristic of intellect	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Muscle eye brain disease with bilateral multicystic leukodystrophy	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
Hyperekplexia epilepsy syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
21q22.11q22.12 microdeletion syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
14q32 deletion syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
X-linked complicated corpus callosum dysgenesis (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	9
X-linked intellectual disability Brooks type (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
X-linked intellectual disability hypotonic face syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Angelman syndrome due to maternal monosomy 15q11q13 (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Tall stature, intellectual disability, renal anomalies syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
RERE-related neurodevelopmental syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Early-onset epilepsy, intellectual disability, brain anomalies syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Combined oxidative phosphorylation defect type 23	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Infantile inflammatory bowel disease with neurological involvement (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Gabriele-de Vries syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
GNB5-related intellectual disability, cardiac arrhythmia syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Growth delay, intellectual disability, hepatopathy syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Non-specific syndromic intellectual disability	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Witteveen Kolk syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Intellectual disability, epilepsy, extrapyramidal syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
VPS11-related autosomal recessive hypomyelinating leukodystrophy	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Seizures, scoliosis, macrocephaly syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Short stature, brachydactyly, obesity, global developmental delay syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Spastic paraplegia, severe developmental delay, epilepsy syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Basel Vanagaite Smirin Yosef syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
Metopic ridging, ptosis, facial dysmorphism syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Severe oculo-renal-cerebellar syndrome (disorder)	Interprets	False	Intellectual ability (observable entity)	Inferred relationship	Some	10
Fryns Smeets Thiry syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Progressive cerebello-cerebral atrophy (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
SATB2-associated syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Autosomal dominant deafness with onychodystrophy syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Cross syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	9
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	10
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
QRICH1-related intellectual disability, chondrodysplasia syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Keppen Lubinsky syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Pierpont syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
RARS-related autosomal recessive hypomyelinating leucodystrophy	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
3-methylglutaconic aciduria type 9	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
9q33.3q34.11 microdeletion syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
16p13.2 microdeletion syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Xq25 microduplication syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
17q24.2 microdeletion syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
9q21.13 microdeletion syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
11q22.2q22.3 microdeletion syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
19p13.3 microduplication syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
20q11.2 microdeletion syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
8q24.3 microdeletion syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Megaconial congenital muscular dystrophy	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
CNTNAP2-related developmental and epileptic encephalopathy	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4

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Id	Description	Lang	Type	Status	Case?	Module
369675010	Intellectual ability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
637762013	Intellectual ability (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1224048011	Level of intelligence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7257941000172113	intellectueel vermogen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)