Ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality

Preferred Label : Ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality;

CISMeF acronym : EDS10;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Eds X; Fn abnormality; EDS10; Ehlers-danlos syndrome, type X; Ehlers-danlos syndrome, dysfibronectinemic type;

Inheritance : Autosomal recessive;

Prefixed ID : 225310;

Détails

Origin ID

225310;

UMLS CUI

C1857038;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, dysfibronectinaemic type [ICD-11 More detail]
- Energy Dispersive Spectroscopy [NCIt concept]
Currated CISMeF NLP mapping
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality [MeSH concept]
- Ehlers-Danlos syndrome, dysfibronectinemic (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, fibronectinemic type [ORDO Disease]
HPO term(s)
- Atypical scarring of skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Hyperextensible skin [HPO term]
- Joint laxity [HPO term]
- Mitral valve prolapse [HPO term]
- Petechiae [HPO term]
- Striae distensae [HPO term]
- Thin skin [HPO term]
ORDO concept(s)
- Ehlers-Danlos syndrome, fibronectinemic type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality [MeSH concept]
- Ehlers-Danlos syndrome, fibronectinemic type [ORDO Disease]

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