mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia

Preferred Label : mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia;

Origin ID

C536033;

UMLS CUI

C1855345;

CISMeF manual mappings
- Cutaneous mastocytosis, conductive hearing loss and microtia [OMIM Phenotype]
- Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hennekam-Beemer syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- Congenital Microtia [MeSH Descriptor]
- hearing loss, conductive [MeSH Descriptor]
- mastocytosis, cutaneous [MeSH Descriptor]
Record concept(s)
- Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]