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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\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\Impaired cognition\Intellectual disability\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Cognitive function 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\Neurological disorder\Neuropathy\Leucodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\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, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
5045362013	RARS-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5045363015	Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5045364014	RARS-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5045365010	Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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