OMOP Concept 36713673
Congenital pontocerebellar hypoplasia type 6
StandardConditionSNOMED718606005Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Congenital pontocerebellar hypoplasia type 6 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C548074 | Pontocerebellar Hypoplasia Type 6 | Non-standard |
| Nebraska Lexicon | 718606005 | Fatal infantile encephalopathy with mitochondrial respiratory chain defect | Non-standard |
Synonyms
Alternative names recorded for Congenital pontocerebellar hypoplasia type 6 across source vocabularies.
- Congenital pontocerebellar hypoplasia type 6 (disorder)
- encefalopatía infantil fatal con defecto de la cadena respiratoria mitocondrial
- Fatal infantile encephalopathy with mitochondrial respiratory chain defect
- hipoplasia pontocerebelosa congénita tipo 6
- hipoplasia pontocerebelosa congénita tipo 6 (trastorno)
- PCH6 - pontocerebellar hypoplasia type 6
- Pontocerebellar hypoplasia type 6
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.
- 1Autosomal recessive hereditary disorder
- 1Congenital pontocerebellar hypoplasia
- 1Developmental hereditary disorder
- 1Hereditary disorder of nervous system
- 2Autosomal hereditary disorder
- 2Congenital cerebellar hypoplasia
- 2Developmental disorder
- 2Disorder of nervous system
- 2Dysgenesis of the brainstem
- 2Hereditary disease
- 2Hereditary disorder by system
- 3Congenital anomaly of brain
- 3Congenital hypoplasia of part of brain
- 3Disease
- 3Disorder of body system
- 3Disorder of brain stem
- 3Dysgenesis of the cerebellum
- 3Genetic disease
- 4Cerebellar disorder
- 4Clinical finding
- 4Congenital anomaly of central nervous system
- 4Congenital anomaly of head
- 4Congenital hypoplasia of brain
- 4Disorder of brain
- 5Congenital anomaly of nervous system
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