Ehlers-Danlos syndrome, dysfibronectinaemic type

Preferred Label : Ehlers-Danlos syndrome, dysfibronectinaemic type;

ICD-11 definition : Ehlers-Danlos syndrome, fibronectinemic type is a type of Ehlers-Danlos syndromes (EDS), a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibilityand is distinguished by platelet dysfunction associated with a fibronectin abnormality.;

ICD-11 synonym : Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality; Ehlers-Danlos syndrome, fibronectin-deficient; Ehlers-Danlos syndrome type 10;

Détails

Origin ID

1014914201;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality [MeSH concept]
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, dysfibronectinemic (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, fibronectinemic type [ORDO Disease]
- Ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality [OMIM Phenotype]

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