110359009: Intellectual disability (disorder)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability	Is a	Developmental mental disorder	false	Inferred relationship	Some
Intellectual disability	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Some	2
Intellectual disability	Is a	Impaired cognition (finding)	true	Inferred relationship	Some
Intellectual disability	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Some	3
Intellectual disability	Is a	Behavior finding	true	Inferred relationship	Some
Intellectual disability	Is a	Intellectual ability - finding	true	Inferred relationship	Some
Intellectual disability	Is a	Neurodevelopmental disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Is a	True	Intellectual disability	Inferred relationship	Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Christianson syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked neurodegenerative syndrome Hamel type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	True	Intellectual disability	Inferred relationship	Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract	Is a	True	Intellectual disability	Inferred relationship	Some
Metopic ridging, ptosis, facial dysmorphism syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Growth delay, intellectual disability, hepatopathy syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Gabriele-de Vries syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Non-specific syndromic intellectual disability	Is a	True	Intellectual disability	Inferred relationship	Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Witteveen Kolk syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	Is a	True	Intellectual disability	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Short stature, brachydactyly, obesity, global developmental delay syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Basel Vanagaite Smirin Yosef syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Sanjad Sakati syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Severe oculo-renal-cerebellar syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Progressive cerebello-cerebral atrophy (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
SATB2-associated syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
QRICH1-related intellectual disability, chondrodysplasia syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Pierpont syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
RARS-related autosomal recessive hypomyelinating leucodystrophy	Is a	True	Intellectual disability	Inferred relationship	Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
9q33.3q34.11 microdeletion syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
16p13.2 microdeletion syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Xq25 microduplication syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
17q24.2 microdeletion syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
9q21.13 microdeletion syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
11q22.2q22.3 microdeletion syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
19p13.3 microduplication syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
20q11.2 microdeletion syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
8q24.3 microdeletion syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	True	Intellectual disability	Inferred relationship	Some
CNTNAP2-related developmental and epileptic encephalopathy	Is a	True	Intellectual disability	Inferred relationship	Some
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
PDE4D haploinsufficiency syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
FG syndrome type 1 (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
PYCR2-related microcephaly, progressive leucoencephalopathy	Is a	True	Intellectual disability	Inferred relationship	Some
NDE1-related microhydranencephaly	Is a	True	Intellectual disability	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Coffin-Lowry syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
4q25 proximal deletion syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Lamb Shaffer syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability, hypotonia, movement disorder syndrome	Is a	True	Intellectual disability	Inferred relationship	Some

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Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

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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
175157018	Intellectual limitation	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
621452016	Intellectual disability	en	Fully specified name	Inactive	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
3643707012	Mental retardation	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
5419401000172119	handicap intellectuel	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5419421000172114	trouble du développement intellectuel	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5419431000172112	oligophrénie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
8968161000172111	déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
9012841000172112	retard mental	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5419391000172116	zwakzinnigheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5419411000172116	verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5419441000172117	verstandelijke ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5419451000172115	intellectuele ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)