MacDermot winter syndrome

Preferred Label : MacDermot winter syndrome;

MeSH synonym : prominent glabella microcephaly hypogenitalism; MacDermot-Winter syndrome;

Origin ID

C537714;

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]
MeSH term(s) associated for indexing
- genitalia, male [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- psychomotor disorders [MeSH Descriptor]
Record concept(s)
- MacDermot Winter syndrome [MeSH 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]