Hypotrichosis-Lymphedema-Telangiectasia syndrome

Preferred Label : Hypotrichosis-Lymphedema-Telangiectasia syndrome;

MeSH note : mutation in SOX18;

Origin ID

C564327;

UMLS CUI

C1843004;

Automatic exact mappings (from CISMeF team)
- hypotrichosis-lymphedema-telangiectasia syndrome [DO Concept]
Currated CISMeF NLP mapping
- Hypotrichosis-lymphedema-telangiectasia syndrome [OMIM Phenotype]
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [ORDO Disease]
- hypotrichosis, lymphedema and telangiectasia syndrome [Disease (Nov.)]
MeSH term(s) associated for indexing
- hypotrichosis [MeSH Descriptor]
- lymphedema [MeSH Descriptor]
- telangiectasis [MeSH Descriptor]
Record concept(s)
- Hypotrichosis-Lymphedema-Telangiectasia syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypotrichosis-lymphedema-telangiectasia syndrome [OMIM Phenotype]
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [ORDO Disease]
- hypotrichosis, lymphedema and telangiectasia syndrome [Disease (Nov.)]