National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Phakomatosis
Synonyms	Phakomatosis Phacomatosis Neurocutaneous Syndrome
Definitions	A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84348
code	C84348
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	A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.
FULL_SYN	Phakomatosis Phacomatosis Neurocutaneous Syndrome
label	Phakomatosis
Maps_To	Phakomatoses, not elsewhere classified
Preferred_Name	Phakomatosis
prefixIRI	Thesaurus:C84348
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0265316
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3266

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/NCIT_C84348	BERO	LOOM
	http://purl.bioontology.org/ontology/MEDDRA/10048734	MEDDRA	LOOM