Preferred Label : Ehlers-Danlos Syndrome, Type IV;
MeSH definition : A subtype of Ehlers-Danlos syndrome (EDS) characterized by vascular pathologies, e.g.,
AORTIC DISSECTION in addition to common EDS findings, e.g., hyperextensible skin and
joints, skin fragility and reduced wound healing capability. It is associated with
mutations in collagen type III alpha 1 chain gene (COLLAGEN TYPE III).;
MeSH synonym : Ehlers Danlos Syndrome, Sack-Barabas Type; Vascular Ehlers-Danlos Syndrome; Ehlers-Danlos Syndrome, Vascular; Ehlers-Danlos Syndromes, Vascular; Syndrome, Vascular Ehlers-Danlos; Syndromes, Vascular Ehlers-Danlos; Vascular Ehlers Danlos Syndrome; Vascular Ehlers-Danlos Syndromes; Type IV Ehlers-Danlos Syndrome; Type IV Ehlers Danlos Syndrome; Vascular Type Ehlers-Danlos Syndrome; Ehlers Danlos Syndrome, Arterial Type; Ehlers-Danlos Syndrome, Arterial Type; Ehlers-Danlos Syndrome, Ecchymotic Type; Ehlers-Danlos Syndrome, Sack-Barabas Type; Ehlers Danlos Syndrome, Sack Barabas Type; EDS IV; Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant; Ehlers Danlos Syndrome Type 4, Autosomal Dominant; Ehlers Danlos Syndrome, Ecchymotic Type; Ehlers-Danlos Syndrome, Vascular Type;
Origin ID : D000094623;
UMLS CUI : C0268338;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Record concept(s)
Semantic type(s)
UMLS correspondences (same concept)
A subtype of Ehlers-Danlos syndrome (EDS) characterized by vascular pathologies, e.g.,
AORTIC DISSECTION in addition to common EDS findings, e.g., hyperextensible skin and
joints, skin fragility and reduced wound healing capability. It is associated with
mutations in collagen type III alpha 1 chain gene (COLLAGEN TYPE III).