A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. [ http://purl.obolibrary.org/obo/ECO_0007638 url:http://www.ednf.org/ url:http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html http://purl.obolibrary.org/obo/ECO_0007643 url:http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome http://purl.obolibrary.org/obo/ECO_0007644 url:https://www.ncbi.nlm.nih.gov/pubmed/23711271 http://purl.obolibrary.org/obo/ECO_0007637 url:http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome url:http://www.merriam-webster.com/medlineplus/ehlers-Danlos http://purl.obolibrary.org/obo/ECO_0007645 url:http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 ]
Synonyms: Cutis hyperelastica elastic skin
Term information
- MESH:D004535
- UMLS_CUI:C0013720
- ICD10CM:Q79.6
- GARD:6322
- ICD9CM:756.83
- NCI:C34568
- SNOMEDCT_US_2020_09_01:268352002
- OMIM:PS130000
NCIthesaurus