Hereditary Connective Tissue Disorder

Preferred Label : Hereditary Connective Tissue Disorder;

NCIt related terms : Connective Tissue Hereditary Disorder;

NCIt definition : An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.;

Details

Origin ID

C97075;

UMLS CUI

C0410787;

Currated CISMeF NLP mapping
- Connective tissue hereditary disorder (disorder) [SNOMED CT concept]
- hereditary connective tissue disorder [Disease (Nov.)]
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)
- Connective tissue hereditary disorder (disorder) [SNOMED CT concept]
- Inherited disorder of connective tissue (disorder) [Inactive SNOMED CT concept]
- hereditary connective tissue disorder [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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