OMOP Concept 604586
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency
StandardConditionSNOMED1003375005Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2021
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency across source vocabularies.
- leucodistrofia metacromática debida a deficiencia de proteína 1 activadora de esfingolípido
- leucodistrofia metacromática debida a deficiencia de proteína 1 activadora de esfingolípido (trastorno)
- Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(33)Roll up to these when you need a wider cohort.
- 1Central nervous system complication
- 1Metabolic neuropathy
- 1Metachromatic leukodystrophy
- 2Autosomal recessive hereditary disorder
- 2Disorder of the central nervous system
- 2Hereditary degenerative disease of central nervous system
- 2Inherited metabolic disorder of nervous system
- 2Leukodystrophy
- 2Neuropathy
- 2Sphingolipidosis
- 3Autosomal hereditary disorder
- 3Central nervous system finding
- 3Degenerative disease of the central nervous system
- 3Disorder of lipid storage and metabolism
- 3Disorder of nervous system
- 3Hereditary disorder of nervous system
- 3Inborn error of metabolism
- 3Lysosomal storage disease
- 3Neurological lesion
- 4Clinical finding
- 4Congenital disease
- 4Degenerative disorder
- 4Disorder of body system
- 4Disorder of lipoprotein AND/OR lipid metabolism
- 4Enzymopathy
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