247573007: intellectueel vermogen (waarneembare entiteit)

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
CNTNAP2-related developmental and epileptic encephalopathy	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
PDE4D haploinsufficiency syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
FG syndrome type 1 (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Symptomatic form of fragile X syndrome in female carrier (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
PYCR2-related microcephaly, progressive leucoencephalopathy	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
NDE1-related microhydranencephaly	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Short stature, developmental delay, congenital heart defect syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Coffin-Lowry syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Fatty acyl-coenzyme A reductase 1 deficiency (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	1
Congenital insensitivity to pain with severe intellectual disability (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	8
Pseudoprogeria syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	8
Severe intellectual disability and progressive spastic paraplegia	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	9
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	8
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Severe oculo-renal-cerebellar syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	9
4q25 proximal deletion syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Lamb Shaffer syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
12p12.1 microdeletion syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
X-linked intellectual disability, hypotonia, movement disorder syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
X-linked intellectual disability, short stature, overweight syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Baraitser Winter cerebrofrontofacial syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Menke Hennekam syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
WARS2-related combined oxidative phosphorylation defect	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	1
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	1
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Craniosynostosis, microretrognathia, severe intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Spondylometaphyseal dysplasia, corneal dystrophy syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Combined oxidative phosphorylation defect type 39	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	1
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	7
Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	1
Clark Baraitser syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 11 (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Congenital pontocerebellar hypoplasia type 14	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
SMARCA2-related blepharophimosis, intellectual disability syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Microphthalmia with brain atrophy syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Dysequilibrium syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
AMeD syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
CIMDAG syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	2
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
CPE-related Prader-Willi-like syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Coffin-Siris syndrome 1 (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	3
Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Intellectual disability due to hypoxia (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Male alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Female alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	4
Male congenital cataract with deafness and hypogonadism syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Female congenital cataract with deafness and hypogonadism syndrome	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	5
Male craniofacial digital and genital anomalies syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6
Female craniofacial digital and genital anomalies syndrome (disorder)	Interprets	True	Intellectual ability (observable entity)	Inferred relationship	Some	6

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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
12392651000146113	intellectueel vermogen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12392661000146111	intellectueel vermogen (waarneembare entiteit)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)