OMOP Concept 4079872
B variant hexosaminidase A deficiency - adult
StandardConditionSNOMED238023004Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Synonyms
Alternative names recorded for B variant hexosaminidase A deficiency - adult across source vocabularies.
- B variant hexosaminidase A deficiency - adult (disorder)
- deficiencia variante B de hexosaminidasa A - adulto
- deficiencia variante B de hexosaminidasa A - adulto (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(26)Roll up to these when you need a wider cohort.
- 1B variant hexosaminidase A deficiency
- 2Tay-Sachs disease
- 3Autosomal recessive hereditary disorder
- 3GM2 gangliosidosis
- 4Autosomal hereditary disorder
- 4Gangliosidosis
- 5Disorder of lipid storage and metabolism
- 5Disorder of lysosomal enzyme
- 5Hereditary disease
- 5Inherited metabolic disorder of nervous system
- 5Lysosomal storage disease
- 6Congenital disease
- 6Disorder of lipoprotein AND/OR lipid metabolism
- 6Enzymopathy
- 6Genetic disease
- 6Hereditary disorder of nervous system
- 6Inborn error of metabolism
- 6Storage disease
- 7Disease
- 7Disorder of nervous system
- 7Fetal and/or neonatal disorder
- 7Hereditary disorder by system
- 7Hereditary metabolic disease
- 7Metabolic disease
- 8Clinical finding
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