Ehlers-Danlos Syndrome

Preferred Label : Ehlers-Danlos Syndrome;

NCIt definition : An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.;

Alternative definition : ACC/AHA: A group of inherited connective tissue disorders characterized by loose and fragile skin and joint hypermobility.;

Details

Origin ID

C34568;

UMLS CUI

C0013720;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome [ACR pathology]
- Ehlers-Danlos syndrome [ACR pathology]
- Ehlers-Danlos syndrome [ACR pathology]
- Ehlers-Danlos syndrome [ACR pathology]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome [PASCAL descriptor]
- Ehlers Danlos syndrome [Disease (Nov.)]
- Ehlers-Danlos syndrome [ICD-10 Sub-category]
- Ehlers-Danlos syndrome [DO Concept]
- Ehlers-Danlos syndrome [ICD-11 Subcategory]
- Ehlers-Danlos syndrome [ICD-9 code]
- Ehlers-Danlos syndrome [ICD-10 Sub-category (who)]
- Ehlers-Danlos syndrome [MedDRA Preferred Term]
- Ehlers-Danlos syndrome [MeSH concept]
- Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome [OMIM phenotypic series]
- ehlers-danlos syndrome [MedlinePlus Topic]
- ehlers-danlos syndrome [MeSH Descriptor]
- ehlers-danlos syndrome, nos [SNOMED Notion]
DO Cross reference
- Ehlers-Danlos syndrome [DO Concept]
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)
- Cutis hyperplastica [MedDRA LLT]
- Ehlers Danlos syndrome [PASCAL descriptor]
- Ehlers Danlos syndrome [Disease (Nov.)]
- Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome [ICD-10 Sub-category]
- Ehlers-Danlos syndrome [DO Concept]
- Ehlers-Danlos syndrome [ICD-9 code]
- Ehlers-Danlos syndrome [ICD-11 Subcategory]
- Ehlers-Danlos syndrome [ICD-10 Sub-category (who)]
- Ehlers-Danlos syndrome [MedDRA Preferred Term]
- Ehlers-Danlos syndrome [MeSH concept]
- Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome [MedlinePlus Topic]
- ehlers-danlos syndrome [MeSH Descriptor]
- ehlers-danlos syndrome, nos [SNOMED Notion]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_gene
- FN1 Gene [NCIt concept]
- FN1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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