night blindness skeletal anomalies unusual facies

Preferred Label : night blindness skeletal anomalies unusual facies;

MeSH synonym : hunter thomson reed syndrome;

Origin ID

C536121;

UMLS CUI

C2931114;

Currated CISMeF NLP mapping
- Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) [SNOMED CT concept]
- Night blindness-skeletal anomalies-dysmorphism syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- facies [MeSH Descriptor]
- myopia [MeSH Descriptor]
- night blindness [MeSH Descriptor]
Record concept(s)
- Night blindness skeletal anomalies unusual facies [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Night blindness-skeletal anomalies-dysmorphism syndrome [ORDO Disease]