OMOP Concept 1245108
Atypical Krabbe disease due to saposin A deficiency
StandardConditionSNOMED1296731001Disorder
Maps from
1
Descendants
0
Valid from
1 Dec 2023
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Atypical Krabbe disease due to saposin A deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567097 | Krabbe Disease, Atypical, due to Saposin A Deficiency | Non-standard |
Synonyms
Alternative names recorded for Atypical Krabbe disease due to saposin A deficiency across source vocabularies.
- Atypical Krabbe disease due to saposin A deficiency (disorder)
- enfermedad Krabbe atípica debida a deficiencia de saposina A
- enfermedad Krabbe atípica debida a deficiencia de saposina A (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Degenerative brain disorder
- 1Disorder of respiratory system
- 1Hereditary degenerative disease of central nervous system
- 1Neurological lesion
- 1Neuropathy
- 2Autosomal hereditary disorder
- 2Clinical finding
- 2Degenerative disease of the central nervous system
- 2Disorder of body system
- 2Disorder of brain
- 2Disorder of nervous system
- 2Hereditary disorder of nervous system
- 2Respiratory finding
- 3Degenerative disorder
- 3Disease
- 3Disorder of head
- 3Disorder of the central nervous system
- 3Finding of brain
- 3Hereditary disease
- 3Hereditary disorder by system
- 4Central nervous system finding
- 4Genetic disease
- 4Head finding
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