773329005: CK syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\CK syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\CK syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\CK syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\CK syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\CK syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\CK syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\CK syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\CK syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\CK syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\CK syndrome
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\CK syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\CK syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\CK syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\CK syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3723193016 CK syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3723194010 X-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3723199017 CK syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3723197015 A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3723198013 A rare genetic X-linked syndromic intellectual disability disorder characterised by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioural problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
CK syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
CK syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
CK syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
CK syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
CK syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
CK syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
CK syndrome	Is a	Inborn error of metabolism	true	Inferred relationship	Some
CK syndrome	Is a	Disorder of lipid metabolism	true	Inferred relationship	Some
CK syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
CK syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
CK syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
CK syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
CK syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
CK syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3723193016	CK syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723194010	X-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723199017	CK syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723197015	A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723198013	A rare genetic X-linked syndromic intellectual disability disorder characterised by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioural problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core