cutis laxa, autosomal dominant

Preferred Label : cutis laxa, autosomal dominant;

MeSH note : PROM mutation in elastin;

Origin ID

C562627;

UMLS CUI

C0268350;

Currated CISMeF NLP mapping
- Autosomal dominant cutis laxa [ICD-11 More detail]
- Autosomal dominant cutis laxa [ORDO Disease]
- Cutis laxa, autosomal dominant (disorder) [SNOMED CT concept]
- autosomal dominant cutis laxa [DO Concept]
- autosomal dominant cutis laxa [Disease (Nov.)]
- cutis laxa, autosomal dominant [SNOMED Notion]
MeSH term(s) associated for indexing
- cutis laxa [MeSH Descriptor]
Record concept(s)
- cutis laxa, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant cutis laxa [ORDO Disease]
- Cutis laxa, autosomal dominant (disorder) [SNOMED CT concept]
- cutis laxa, autosomal dominant [SNOMED Notion]
Validated automatic mappings to BTNT
- Cutis laxa, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant cutis laxa 1 [DO Concept]