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
5399974011	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
5399975012	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

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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