Autosomal dominant cutis laxa

Preferred Label : Autosomal dominant cutis laxa;

ICD-11 definition : Autosomal dominant cutis laxa results from mutations in the elastin gene ELN which result in the development of folds of loose, inelastic, redundant skin that typically become more prominent with age. In about a third of cases the condition results from a new mutation. It may first be recognized at any time from birth to early adulthood. Characteristic facial features include an aged appearance, long philtrum, high forehead, large earlobes, and beaked nose. Systemic manifestations include aortic aneurysm, severe congenital lung disease and pulmonary artery disease, though many patients live normal life spans. There is marked intrafamilial variability of skin and other systemic manifestations.;

ICD-11 synonym : ADCL - [Autosomal dominant cutis laxa] (MIM 123700); ADCL - [Autosomal dominant cutis laxa];

ICD-11 acronym : ADCL;

Details

Origin ID

720393698;

Currated CISMeF NLP mapping
- 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]
- cutis laxa, autosomal dominant [MeSH Supplementary Concept]
- cutis laxa, autosomal dominant [MeSH concept]
Validated automatic mappings to BTNT
- Cutis laxa, autosomal dominant 1 [OMIM Phenotype]

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