National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Phakomatosis
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	Neurocutaneous Syndrome Phacomatosis
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97172
label	Phakomatosis
NICHD_Hierarchy_Term	Phakomatosis
Preferred_Name	Phakomatosis
prefixIRI	C84348
prefLabel	Phakomatosis
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0265316
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3266

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	There are currently no mappings for this class.