National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Genodermatosis
Synonyms	Genodermatosis
Definitions	A group of inherited skin disorders that present with multisystem involvement. It includes ichthyosis, epidermolysis bullosa, ectodermal dysplasia, cutis laxa, progeroid conditions, xeroderma pigmentosum, Rothmund Thomson syndrome, and dyskeratosis congenita.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156032
code	C156032
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168
Contributing_Source	CTRP
DEFINITION	A group of inherited skin disorders that present with multisystem involvement. It includes ichthyosis, epidermolysis bullosa, ectodermal dysplasia, cutis laxa, progeroid conditions, xeroderma pigmentosum, Rothmund Thomson syndrome, and dyskeratosis congenita.
Display_Name	Genodermatosis
FULL_SYN	Genodermatosis
label	Genodermatosis
Preferred_Name	Genodermatosis
prefixIRI	Thesaurus:C156032
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0037277
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97174

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DERMO_0000002	DERMO	LOOM
http://purl.obolibrary.org/obo/NCIT_C156032	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/239001006	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/X50H0	RCD	LOOM