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Epidermodysplasia Verruciformis (CUI C0014522) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0014522

NCI Thesaurus Code: C126877  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An extremely rare skin disorder usually inherited in an autosomal recessive pattern and caused by mutation(s) in the TMC6 or TMC8 gene, encoding transmembrane channel-like protein 6 and transmembrane channel-like protein 8, respectively. It is characterized by chronic human papillomavirus infection. Patients develop papillomatous wart-like lesions and pigmented plaques on the skin. It predisposes to cutaneous carcinomas, especially in situ and invasive squamous cell carcinomas.

MSH Definition: An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales.

Synonyms & Abbreviations: (see Synonym Details)
Disease, Lewandowsky-Lutz
Disease, Lutz-Lewandowsky
Epidermodysplasia verruciformis (disorder)
Epidermodysplasia Verruciformis [Disease/Finding]
Epidermodysplasia verruciformis
EVER
EV
Lewandowsky Lutz Disease
LEWANDOWSKY LUTZ DIS
Lewandowsky-Lutz disease
Lewandowsky-Lutz Dysplasia
Lewandowsky-Lutz syndrome
Lutz Lewandowsky Disease
LUTZ LEWANDOWSKY DIS
Lutz-Lewandowsky Disease
Lutz-Lewandowsky epidermodysplasia verruciformis

External Source Codes: 
NCI Thesaurus Code C126877 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN a non-neoplastic tumor virus infect MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH TM UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CTV3ID X70LY SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 18354 GARD
DISEASE_IDENTIFIER_ID 18355 GARD
DX 19870101 MSH
EFFECTIVE_TIME 20020731 SNOMEDCT_US
GENELOCUS ,1,7,q,2,5, OMIM
GENESYMBOL EV2 OMIM
GENESYMBOL EVER2 OMIM
GENESYMBOL TMC8 OMIM
HAS_GARD_PAGE true GARD
HN 87 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2013-12-02T00:00:00 GARD
MDA 19860401 MSH
MESH_DEFINITION An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales. NDFRT
MESH_DUI D004819 NDFRT
MESH_NAME Epidermodysplasia Verruciformis NDFRT
MESH_UI M0007556 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150622 MSH
MN C02.256.650.810.345 MSH
MN C02.825.810.260 MSH
MN C02.928.914.345 MSH
MN C17.800.838.790.810.260 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001122 NDFRT
PM 87 MSH
PRIMARY_PATH 10052339$10033724$10047438$10021881$Epidermodysplasia verruciformis$Papilloma viral infections$Viral infectious disorders$Infections and infestations MDR
PRIMARY_SOC 10021881 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6357/epidermodysplasia-verruciformis/resources/1 GARD
RXAUI 3154698 RXNORM
RXAUI 3154699 RXNORM
RXAUI 3189390 RXNORM
RXAUI 3190407 RXNORM
RXCUI 1022949 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 19138001 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS B07 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~B07 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS B07.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~B07.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X70LY SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T014699 MSH
TERMUI T014700 MSH
TERMUI T014701 MSH
TH NLM (1987) MSH
TH OMIM (2013) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0014522

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