Ehlers-Danlos Syndrome, Type VII

Preferred Label : Ehlers-Danlos Syndrome, Type VII;

NCIt definition : Ehlers-Danlos syndrome, type VII includes the arthrochalasia type (types VIIA and VIIB) Ehlers-Danlos syndrome, and the dermatosparaxis type (type VIIC) Ehlers-Danlos syndrome. The arthrochalasia type Ehlers-Danlos syndrome is caused by mutations in the COL1A1 gene or the COL1A2 gene. The dermatosparaxis type Ehlers-Danlos syndrome is caused by mutations in the ADAMTS2 gene.;

NCI Metathesaurus CUI : CL504369;

Details

Origin ID

C125701;

UMLS CUI

C0268345;

CISMeF manual mappings
- Ehlers Danlos syndrome type VII [Disease (Nov.)]
Currated CISMeF NLP mapping
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH Supplementary Concept]
- Ehlers-danlos syndrome, arthrochalasia type, 1 [OMIM Phenotype]
- ehlers-danlos syndrome, procollagen proteinase deficient [SNOMED Notion]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers Danlos syndrome type VII [Disease (Nov.)]
- Ehlers-Danlos syndrome type 7A [ORDO Disease]
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH concept]
- Ehlers-danlos syndrome, arthrochalasia type, 1 [OMIM Phenotype]
- ehlers-danlos syndrome, procollagen proteinase deficient [SNOMED Notion]
Validated automatic mappings to BTNT
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome type 7A [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
related_to_genetic_biomarker
- ADAMTS2 Gene [NCIt concept]
- COL1A1 Gene [NCIt concept]
- COL1A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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