National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Hereditary Connective Tissue Disorder
Synonyms	Hereditary Connective Tissue Disorder Connective Tissue Hereditary Disorder
Definitions	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
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	Hereditary Connective Tissue Disorder Connective Tissue Hereditary Disorder
label	Hereditary Connective Tissue Disorder
Preferred_Name	Hereditary Connective Tissue Disorder
prefixIRI	Thesaurus:C97075
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0410787
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26729

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C97075	BERO	LOOM
http://purl.obolibrary.org/obo/MONDO_0023603	KTAO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Connective_Tissue_Disorder	CSEO	LOOM