pectus excavatum, macrocephaly, short stature, dysplastic nails

Preferred Label : pectus excavatum, macrocephaly, short stature, dysplastic nails;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0564241;

UMLS CUI

C1838160;

Currated CISMeF NLP mapping
- Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) [SNOMED CT concept]
- Pectus excavatum, macrocephaly, short stature, and dysplastic nails [OMIM Phenotype]
- Pectus excavatum-macrocephaly-dysplastic nails syndrome [ORDO Disease]
Related record
- pectus excavatum, macrocephaly, short stature, dysplastic nails [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pectus excavatum, macrocephaly, short stature, and dysplastic nails [OMIM Phenotype]