1172595004: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Leukodystrophy\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\...
• \Leukodystrophy\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leukodystrophy\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\C11ORF73-related autosomal recessive hypomyelinating 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\C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634525018	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
4634526017	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4634527014	C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4634528016	C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4634529012	C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4636644018	Hypomyelinating leukodystrophy due to HIKESHI deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4636645017	Hypomyelinating leucodystrophy due to HIKESHI deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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