712637001: Ribonucleic acid polymerase III-related leukodystrophy (disorder)

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

\Neurological lesion\Leucodystrophy\RNA polymerase III-related leukodystrophy

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\RNA polymerase III-related leukodystrophy

\Hereditary degenerative disease of central nervous system\RNA polymerase III-related leukodystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RNA polymerase III-related leukodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\RNA polymerase III-related leukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\RNA polymerase III-related leukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\RNA polymerase III-related leukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RNA polymerase III-related leukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\RNA polymerase III-related leukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RNA polymerase III-related leukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\RNA polymerase III-related leukodystrophy
\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\RNA polymerase III-related leukodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
RNA polymerase III-related leukodystrophy	Is a	Leucodystrophy	true	Inferred relationship	Some
RNA polymerase III-related leukodystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
RNA polymerase III-related leukodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
RNA polymerase III-related leukodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
RNA polymerase III-related leukodystrophy	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
RNA polymerase III-related leukodystrophy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
RNA polymerase III-related leukodystrophy	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
RNA polymerase III-related leukodystrophy	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
RNA polymerase III-related leukodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
RNA polymerase III-related leukodystrophy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3083476012	RNA polymerase III-related leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3083953016	Ribonucleic acid polymerase III-related leukodystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3083954010	Ribonucleic acid polymerase III-related leukodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3791605015	RNA polymerase III-related leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3791606019	Ribonucleic acid polymerase III-related leucodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core