Ehlers-Danlos syndrome, dermatosparaxis type

Preferred Label : Ehlers-Danlos syndrome, dermatosparaxis type;

ICD-11 definition : Ehlers-Danlos syndrome, dermatosparaxis type is a type of Ehlers-Danlos syndromes (EDS), a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility, and is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described.;

ICD-11 synonym : Ehlers-Danlos syndrome type 7C;

Details

Origin ID

445808781;

UMLS CUI

C2700425;

Currated CISMeF NLP mapping
- Dermatosparaxis Ehlers-Danlos syndrome [ORDO Disease]
- Dermatosparaxis Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome dermatosparaxis type [DO Concept]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH concept]
- Ehlers-danlos syndrome, dermatosparaxis type [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dermatosparaxis Ehlers-Danlos syndrome [ORDO Disease]
- Dermatosparaxis Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH concept]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH Supplementary Concept]
- Ehlers-danlos syndrome, dermatosparaxis type [OMIM Phenotype]

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