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Xeroderma Pigmentosum (CUI C0043346) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0043346

NCI Thesaurus Code: C3452  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.

GARD Definition: Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop in infancy or early childhood. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least eight genes have been identified. The condition is inherited in an autosomal recessive manner. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: A genetic condition marked by an extreme sensitivity to ultraviolet radiation, including sunlight. People with xeroderma pigmentosum are not able to repair skin damage from the sun and other sources of ultraviolet radiation, and have a very high risk of skin cancer.

CSP Definition: rare pigmentary atrophic autosomal recessive disease manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that permits excisional repair of utraviolet damaged DNA.

MSH Definition: A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.

Synonyms & Abbreviations: (see Synonym Details)
Angioma Pigmentosum Atrophicum
Atrophoderma Pigmentosum
Kaposi Dermatosis
KAPOSI DISEASE
KAPOSI DIS
Kaposi's Disease
Kaposis Disease
KAPOSIS DIS
Melanosis Lenticularis Progressiva
Pigmented Epitheliomatosis
Xeroderma of Kaposi
Xeroderma pigmentosa
Xeroderma pigmentosum (disorder)
Xeroderma Pigmentosum [Disease/Finding]
Xeroderma Pigmentosum Syndrome
xeroderma pigmentosum
XP - Xeroderma pigmentosum
XP

External Source Codes: 
NCI Thesaurus Code C3452 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN if non-neoplastic, coordinate IM with precoordinated organ/disease term (IM); if neoplastic, coordinate IM with organ/neoplasm term (IM); do not confuse KAPOSI DISEASE with SARCOMA, KAPOSI MSH
AQL BL BS CF CH 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 SC SE SU TH UL UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID PH322 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2009-10-19 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-9833 CSP
DISEASE_IDENTIFIER_ID 6200 GARD
DISEASE_IDENTIFIER_ID 6201 GARD
DX 19630101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 63; KAPOSI DISEASE was KAPOSI'S DISEASE 1963-97 MSH
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. NDFRT
MESH_DUI D014983 NDFRT
MESH_NAME Xeroderma Pigmentosum NDFRT
MESH_UI M0023063 NDFRT
MMR 20160701 MSH
MN C04.834.867 MSH
MN C16.131.831.936 MSH
MN C16.320.850.970 MSH
MN C17.800.600.925 MSH
MN C17.800.621.936 MSH
MN C17.800.804.936 MSH
MN C17.800.827.970 MSH
MN C18.452.284.975 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C3452 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003177 NDFRT
ORDER_NO 28079 ICD10CM
ORIG_STY Genetic condition PDQ
PID 7570 PDQ
PM 63; KAPOSI DISEASE was KAPOSI'S DISEASE 1963-97 MSH
PRIMARY_PATH 10048220$10040834$10040789$10010331$Xeroderma pigmentosum$Skin and subcutaneous tissue disorders congenital NEC$Skin and subcutaneous tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 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/7910/xeroderma-pigmentosum/resources/1 GARD
RXAUI 3184270 RXNORM
RXAUI 3184275 RXNORM
RXAUI 3256830 RXNORM
RXAUI 3256838 RXNORM
RXCUI 1025251 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 44600005 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q82.1 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~Q82.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q82.1 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 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~Q82.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PH322 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 T043744 MSH
TERMUI T043745 MSH
TERMUI T043746 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (1998) 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=C0043346

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