1220600004: Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\RARS-related autosomal recessive hypomyelinating leucodystrophy

\Neurological lesion\Leucodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy

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

\Leucodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy

\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\RARS-related autosomal recessive hypomyelinating leucodystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
\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\RARS-related autosomal recessive hypomyelinating leucodystrophy
\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\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\RARS-related autosomal recessive hypomyelinating leucodystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\RARS-related autosomal recessive hypomyelinating leucodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5045361018 Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5045362013 RARS-related autosomal recessive hypomyelinating leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5045363015 Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5045364014 RARS-related autosomal recessive hypomyelinating leukodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5045365010 Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leucodystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5045366011 A rare genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5045367019 A rare genetic leucodystrophy characterised by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5616851000052116 RARS-relaterad autosomalt recessiv hypomyeliniserande leukodystrofi sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
RARS-related autosomal recessive hypomyelinating leucodystrophy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
RARS-related autosomal recessive hypomyelinating leucodystrophy	Is a	Intellectual disability	true	Inferred relationship	Some
RARS-related autosomal recessive hypomyelinating leucodystrophy	Is a	Leucodystrophy	true	Inferred relationship	Some
RARS-related autosomal recessive hypomyelinating leucodystrophy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
RARS-related autosomal recessive hypomyelinating leucodystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
RARS-related autosomal recessive hypomyelinating leucodystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
RARS-related autosomal recessive hypomyelinating leucodystrophy	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
RARS-related autosomal recessive hypomyelinating leucodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
RARS-related autosomal recessive hypomyelinating leucodystrophy	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
RARS-related autosomal recessive hypomyelinating leucodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
RARS-related autosomal recessive hypomyelinating leucodystrophy	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
RARS-related autosomal recessive hypomyelinating leucodystrophy	Has interpretation	Impaired	true	Inferred relationship	Some	4
RARS-related autosomal recessive hypomyelinating leucodystrophy	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
RARS-related autosomal recessive hypomyelinating leucodystrophy	Has interpretation	Impaired	true	Inferred relationship	Some	5

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
5045361018	Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5045362013	RARS-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045363015	Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5045364014	RARS-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045365010	Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5045366011	A rare genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045367019	A rare genetic leucodystrophy characterised by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5616851000052116	RARS-relaterad autosomalt recessiv hypomyeliniserande leukodystrofi	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)