MacDermot Winter syndrome

Preferred Label : MacDermot Winter syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0532175;

UMLS CUI

C0796024;

Currated CISMeF NLP mapping
- Macdermot-winter syndrome [OMIM Phenotype]
- Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) [SNOMED CT concept]
- Prominent glabella-microcephaly-hypogenitalism syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Partial camptodactyly [HPO term]
- Prenatal growth deficiency [HPO term]
Related record
- MacDermot winter syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macdermot-winter syndrome [OMIM Phenotype]
- Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) [SNOMED CT concept]
- Prominent glabella-microcephaly-hypogenitalism syndrome [ORDO Disease]