110359009: verstandelijke beperking (aandoening)

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
X-linked intellectual disability, hypotonia, movement disorder syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Baraitser Winter cerebrofrontofacial syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Menke Hennekam syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
WARS2-related combined oxidative phosphorylation defect	Is a	True	Intellectual disability	Inferred relationship	Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder	Is a	True	Intellectual disability	Inferred relationship	Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Spondylometaphyseal dysplasia, corneal dystrophy syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Combined oxidative phosphorylation defect type 39	Is a	True	Intellectual disability	Inferred relationship	Some
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Clark Baraitser syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 11 (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
SMARCA2-related blepharophimosis, intellectual disability syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Dysequilibrium syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
AMeD syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
CIMDAG syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
CPE-related Prader-Willi-like syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability due to hypoxia (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Is a	False	Intellectual disability	Inferred relationship	Some

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Dutch mental health diagnoses simple reference set

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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
6910811000146118	verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6910821000146111	verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7436931000146114	verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7436941000146118	mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13083591000146118	Psychische stoornissen bij mensen met een IQ minder dan 70, gekenmerkt door beperkingen in het verstandelijk functioneren.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)