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

• SNOMED CT Concept\constatation clinique\...
• \lésion neurologique\Leukodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\...
• \Leukodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Developmental hereditary disorder\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Leukodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leukodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Leukodystrophy\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\RARS-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\trouble du développement\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

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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