OMOP Concept 36717667
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
StandardConditionSNOMED718759003Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 718759003 | Lissencephaly due to tubulin alpha 1A mutation | Non-standard |
Synonyms
Alternative names recorded for Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation across source vocabularies.
- lisencefalia debida a mutación de TUBA1A
- lisencefalia debida a mutación de tubulina alfa 1A
- lisencefalia debida a mutación de tubulina alfa 1A (trastorno)
- Lissencephaly due to tubulin alpha 1A mutation
- Lissencephaly due to tubulin alpha 1A mutation (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Developmental hereditary disorder
- 1Hereditary disorder of nervous system
- 1Lissencephaly
- 2Autosomal hereditary disorder
- 2Congenital anomaly of brain
- 2Developmental disorder
- 2Disorder of nervous system
- 2Disorder of neuronal migration and differentiation
- 2Hereditary disease
- 2Hereditary disorder by system
- 3Congenital anomaly of central nervous system
- 3Congenital anomaly of head
- 3Disease
- 3Disorder of body system
- 3Disorder of brain
- 3Genetic disease
- 4Clinical finding
- 4Congenital anomaly of nervous system
- 4Congenital malformation
- 4Disorder of head
- 4Disorder of the central nervous system
- 4Finding of brain
- 5Central nervous system finding
- 5Congenital disease
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