al gazali hirschsprung syndrome

Preferred Label : al gazali hirschsprung syndrome;

MeSH synonym : hirschsprung's disease, hypoplastic nails, and minor dysmorphic features; hirschsprung's disease, hypoplastic nails, and dysmorphic facial features; al gazali donnai mueller syndrome; hirschsprung disease with hypoplastic nails and dysmorphic facial features;

Details

Origin ID

C535615;

UMLS CUI

C1856110;

Currated CISMeF NLP mapping
- Hirschsprung disease with hypoplastic nails and dysmorphic facial features [OMIM Phenotype]
- Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) [SNOMED CT concept]
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- facies [MeSH Descriptor]
- hirschsprung disease [MeSH Descriptor]
- nail diseases [MeSH Descriptor]
Record concept(s)
- Al Gazali Hirschsprung syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hirschsprung disease with hypoplastic nails and dysmorphic facial features [OMIM Phenotype]
- Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) [SNOMED CT concept]
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome [ORDO Disease]

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