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

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leukodystrophy\Ribonucleic acid polymerase III-related leukodystrophy

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

\Leukodystrophy\Ribonucleic acid polymerase III-related leukodystrophy

\Hereditary degenerative disease of central nervous system\Ribonucleic acid 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\Ribonucleic acid polymerase III-related leukodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ribonucleic acid polymerase III-related leukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leukodystrophy\Ribonucleic acid polymerase III-related leukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ribonucleic acid 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\Ribonucleic acid polymerase III-related leukodystrophy
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\Ribonucleic acid polymerase III-related leukodystrophy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ribonucleic acid polymerase III-related leukodystrophy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\Ribonucleic acid polymerase III-related leukodystrophy
\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\Ribonucleic acid polymerase III-related leukodystrophy

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

Descriptions:

Id Description Lang Type Status Case? Module

3083476012 RNA polymerase III-related leukodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module

3083953016 Ribonucleic acid polymerase III-related leukodystrophy (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3083954010 Ribonucleic acid polymerase III-related leukodystrophy en Synonym Active Only initial character case insensitive SNOMED CT core module

3791605015 RNA polymerase III-related leucodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module

3791606019 Ribonucleic acid polymerase III-related leucodystrophy en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

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
3083476012	RNA polymerase III-related leukodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3083953016	Ribonucleic acid polymerase III-related leukodystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3083954010	Ribonucleic acid polymerase III-related leukodystrophy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3791605015	RNA polymerase III-related leucodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3791606019	Ribonucleic acid polymerase III-related leucodystrophy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module