724228005: Infantile choroidocerebral calcification syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Neurological lesion\Lesion of brain\Infantile choroidocerebral calcification syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Lesion of brain\Infantile choroidocerebral calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Lesion of brain\Infantile choroidocerebral calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Lesion of brain\Infantile choroidocerebral calcification syndrome

\Disorder of head\Disorder of brain\Lesion of brain\Infantile choroidocerebral calcification syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Infantile choroidocerebral calcification syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Infantile choroidocerebral calcification syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Infantile choroidocerebral calcification syndrome

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3432896016 Infantile choroidocerebral calcification syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3432897013 Infantile choroidocerebral calcification syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3432898015 Choroid plexus calcification and mental retardation en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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
3432896016	Infantile choroidocerebral calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3432897013	Infantile choroidocerebral calcification syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3432898015	Choroid plexus calcification and mental retardation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module