702379005: Hypomyelination and congenital cataract (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Hypomyelination and congenital cataract
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Hypomyelination and congenital cataract

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

\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Hypomyelination and congenital cataract

\Finding of head region\Leukoencephalopathy\Hypomyelination and congenital cataract

\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Hypomyelination and congenital cataract

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hypomyelination and congenital cataract
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypomyelination and congenital cataract
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hypomyelination and congenital cataract
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hypomyelination and congenital cataract
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Hypomyelination and congenital cataract
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Hypomyelination and congenital cataract

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995368018 HCC - hypomyelination and congenital cataract en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995422017 Hypomyelination and congenital cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995853012 Hypomyelination and congenital cataract (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
12712041000172113 hypomyélinisation et cataracte congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4454861000172115 hypomyelinisatie en congenitaal cataract nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypomyelination and congenital cataract	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hypomyelination and congenital cataract	Is a	Leukoencephalopathy	true	Inferred relationship	Some
Hypomyelination and congenital cataract	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypomyelination and congenital cataract	Finding site	Cerebral white matter structure	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets