724228005: Infantile choroidocerebral calcification syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Lesion of brain (disorder)\Infantile choroidocerebral calcification syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Infantile choroidocerebral calcification syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Infantile choroidocerebral calcification syndrome
• \Neurological lesion\Lesion of brain (disorder)\Infantile choroidocerebral calcification syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Lesion of brain (disorder)\Infantile choroidocerebral calcification syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Infantile choroidocerebral calcification syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Infantile choroidocerebral calcification syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Infantile choroidocerebral calcification syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Infantile choroidocerebral calcification syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile choroidocerebral calcification syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile choroidocerebral calcification syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Disease\Degenerative disorder\Calcinosis\Infantile choroidocerebral calcification syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Infantile choroidocerebral calcification syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Infantile choroidocerebral calcification syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Infantile choroidocerebral calcification syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Infantile choroidocerebral calcification syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3432896016	Infantile choroidocerebral calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432897013	Infantile choroidocerebral calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432898015	Choroid plexus calcification and mental retardation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403284013	A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403285014	A rare syndromic intellectual disability characterised by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432896016	Infantile choroidocerebral calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432897013	Infantile choroidocerebral calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432898015	Choroid plexus calcification and mental retardation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432899011	This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403284013	A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403285014	A rare syndromic intellectual disability characterised by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3381731001000115	Infantile Plexus choroideus-Kalzifikation-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
957361000172111	calcifications du plexus choroïde, forme infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
957361000172111	calcifications du plexus choroïde, forme infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3381731001000115	Infantile Plexus choroideus-Kalzifikation-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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