Athabaskan brainstem dysgenesis syndrome

Preferred Label : Athabaskan brainstem dysgenesis syndrome;

ICD-11 definition : Athabaskan brainstem dysgenesis is a central nervous system developmental anomaly characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation.;

Details

Origin ID

1706255981;

UMLS CUI

C1832215;

Currated CISMeF NLP mapping
- Athabaskan brainstem dysgenesis [MeSH concept]
- Athabaskan brainstem dysgenesis syndrome [ORDO Disease]
- Athabaskan brainstem dysgenesis syndrome [DO Concept]
- Athabaskan brainstem dysgenesis syndrome [OMIM Phenotype]
- Athabaskan brainstem dysgenesis syndrome (disorder) [SNOMED CT concept]
- athabaskan brainstem dysgenesis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Athabaskan brainstem dysgenesis [MeSH concept]
- Athabaskan brainstem dysgenesis syndrome [DO Concept]
- Athabaskan brainstem dysgenesis syndrome [OMIM Phenotype]
- Athabaskan brainstem dysgenesis syndrome [ORDO Disease]
- Athabaskan brainstem dysgenesis syndrome (disorder) [SNOMED CT concept]
- athabaskan brainstem dysgenesis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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