773329005: CK syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\CK syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\CK syndrome
• \Functional finding\Cognitive function 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\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\CK syndrome
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipid metabolism disorder\CK syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\CK syndrome
• \Disease\Congenital disease\Inborn error of metabolism\CK syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\CK syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\CK syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\CK syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723193016	CK syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3723194010	X-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3723199017	CK syndrome (disorder)	en	Fully specified name	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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