1237515001: Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Leukodystrophy\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\...
• \Leukodystrophy\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Hereditary degenerative disease of central nervous system\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leukodystrophy\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \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\Leukodystrophy due to alkaline ceramidase 3 deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Leukodystrophy due to alkaline ceramidase 3 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099597018	Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5099598011	Alkaline ceramidase 3 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5099599015	ACER3-related early childhood-onset progressive leukodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5099600017	Leukodystrophy due to alkaline ceramidase 3 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5099601018	ACER3-related early childhood-onset progressive leucodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5099602013	Leucodystrophy due to alkaline ceramidase 3 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start