OMOP Concept 36675039
Severe neonatal onset encephalopathy with microcephaly
StandardConditionSNOMED771303004Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Severe neonatal onset encephalopathy with microcephaly via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C566878 | Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations | Non-standard |
Synonyms
Alternative names recorded for Severe neonatal onset encephalopathy with microcephaly across source vocabularies.
- encefalopatía neonatal severa asociada a MECP2
- encefalopatía severa de comienzo neonatal con microcefalia
- encefalopatía severa de comienzo neonatal con microcefalia (trastorno)
- MECP2-related severe neonatal encephalopathy
- Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation
- Severe congenital encephalopathy due to MECP2 mutation
- Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation
- Severe neonatal onset encephalopathy with microcephaly (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(35)Roll up to these when you need a wider cohort.
- 1Developmental and epileptic encephalopathy
- 1Developmental hereditary disorder
- 1Hereditary disorder of nervous system
- 1MECP2 related disorder
- 1Microcephaly
- 1Neonatal encephalopathy
- 1X-linked recessive hereditary disease
- 2Developmental disorder
- 2Disorder of brain
- 2Disorder of nervous system
- 2Epilepsy
- 2Finding of head circumference
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Neonatal disorder
- 2Neurodevelopmental disorder
- 2X-linked hereditary disease
- 3Body measurement finding
- 3Disease
- 3Disorder of body system
- 3Disorder of head
- 3Disorder of the central nervous system
- 3Fetal and/or neonatal disorder
- 3Finding of brain
- 3Genetic disease
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