702379005: Hypomyelination and congenital cataract (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Leukoencephalopathy\Hypomyelination and congenital cataract
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Hypomyelination and congenital cataract
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Hypomyelination and congenital cataract

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypomyelination and congenital cataract	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination and congenital cataract	Is a	Leukoencephalopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination and congenital cataract	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination and congenital cataract	Finding site	Cerebral white matter structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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	Only initial character case insensitive (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	Only initial character 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
3433361001000112	Hypomyelinisierung - kongenitale Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6255361000241111	hypomyélinisation et cataracte congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6255361000241111	hypomyélinisation et cataracte congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433361001000112	Hypomyelinisierung - kongenitale Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module