110359009: Intellectual disability (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Mental disorder\Developmental mental disorder\Intellectual disability

\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability	Is a	Developmental mental disorder	true	Inferred relationship	Some
Intellectual disability	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bardet-Biedl syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Coffin-Siris syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Borjeson-Forssman-Lehmann syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Profound intellectual disability (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	Is a	True	Intellectual disability	Inferred relationship	Some
Severe intellectual disability (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Cutis laxa-corneal clouding-oligophrenia syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Moderate intellectual disability (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Rett's disorder	Is a	True	Intellectual disability	Inferred relationship	Some
Borderline intellectual disability (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Mild intellectual disability (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Kohlschutter's syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Laurence-Moon syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Is a	False	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Savant syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Renpenning syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Pitt-Hopkins syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
PPM-X syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Is a	False	Intellectual disability	Inferred relationship	Some
Partington syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Snyder-Robinson syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)	Is a	False	Intellectual disability	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	True	Intellectual disability	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Trigonocephaly C syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
McDonough syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Harrod syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Early onset parkinsonism and intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Alopecia and intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Trisomy 10p (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Chudley-Lowry-Hoars syndrom	Is a	False	Intellectual disability	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Biemond syndrome type 2 (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Wolf Hirschhorn syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Achalasia microcephaly syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Oro-facial digital syndrome type 9 (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Oro-facial digital syndrome type 11 (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-bunden intellektuell funktionsnedsättning, Zoricktyp	Is a	False	Intellectual disability	Inferred relationship	Some
Fried syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Seemanova type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Syndromic X-linked intellectual disability type 11 (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Shrimpton type	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Siderius type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Stevenson type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Stocco Dos Santos type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Stoll type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Turner type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Wilson type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Schimke type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Pai type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Miles Carpenter type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Cantagrel type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Armfield type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability Abidi type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Pallister W syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
BSG syndrome	Is a	True	Intellectual disability	Inferred relationship	Some
Carpenter-Waziris syndrom	Is a	False	Intellectual disability	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
syndrom med X-bunden intellektuell funktionsnedsättning, agenesi av corpus callosum och spastisk quadripares	Is a	False	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Smith-Fineman-Myers syndrom	Is a	False	Intellectual disability	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali	Is a	False	Intellectual disability	Inferred relationship	Some
Disorder of sex development with intellectual disability syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
17q11.2 microduplication syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some
19q13.11 microdeletion syndrome (disorder)	Is a	True	Intellectual disability	Inferred relationship	Some

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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
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)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4179911000052115	intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)