724228005: Infantile choroidocerebral calcification syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Infantile choroidocerebral calcification syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Infantile choroidocerebral calcification syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Infantile choroidocerebral calcification syndrome (disorder)

\Neurological lesion\Lesion of brain\Infantile choroidocerebral calcification syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Infantile choroidocerebral calcification syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Infantile choroidocerebral calcification syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome (disorder)
\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 (disorder)
\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 (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Infantile choroidocerebral calcification syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Infantile choroidocerebral calcification syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile choroidocerebral calcification syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Degenerative disorder\Calcinosis\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder 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 (disorder)
\Disease\Disorder of body system\Disorder 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 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile choroidocerebral calcification syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Infantile choroidocerebral calcification syndrome (disorder)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Extraskeletal calcification	false	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Lesion of brain	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	1
Infantile choroidocerebral calcification syndrome (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	1
Infantile choroidocerebral calcification syndrome (disorder)	Finding site	Structure of choroid plexus	true	Inferred relationship	Some	1
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Calcinosis	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Infantile choroidocerebral calcification syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Infantile choroidocerebral calcification syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Infantile choroidocerebral calcification syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Infantile choroidocerebral calcification syndrome (disorder)	Is a	Degenerative brain disorder	true	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

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Group

Reference Sets

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

Back to Start

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