National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Hereditary Connective Tissue Disorder

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97075

code

C97075

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

DEFINITION

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

FULL_SYN

Connective Tissue Hereditary Disorder

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26729

label

Hereditary Connective Tissue Disorder

NICHD_Hierarchy_Term

Hereditary Connective Tissue Disorder

Preferred_Name

Hereditary Connective Tissue Disorder

prefixIRI

C97075

prefLabel

Hereditary Connective Tissue Disorder

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0410787

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26729

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