xeroderma pigmentosum

Preferred Label : xeroderma pigmentosum;

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.;

MeSH synonym : kaposis disease; kaposi disease; kaposi's disease;

MeSH annotation : 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;

Wikipedia link : https://en.wikipedia.org/wiki/Xeroderma pigmentosum;

Details

Origin ID

D014983;

UMLS CUI

C0043346;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- ERCC excision repair 4, endonuclease catalytic subunit [HGNC gene]
- Paracel Islands [NCIt concept]
- Xeroderma pigmentosum A [ICD-11 More detail]
- Xeroderma pigmentosum, Complementation group C [OMIM Phenotype]
- Xeroderma pigmentosum, complementation group a [OMIM Phenotype]
- Xeroderma pigmentosum, complementation group e [OMIM Phenotype]
- xeroderma pigmentosum, group a [SNOMED Notion]
- xeroderma pigmentosum, group b [SNOMED Notion]
- xeroderma pigmentosum, group c [SNOMED Notion]
- xeroderma pigmentosum, group d [SNOMED Notion]
- xeroderma pigmentosum, group e [SNOMED Notion]
- xeroderma pigmentosum, group f [SNOMED Notion]
- xeroderma pigmentosum, group g [SNOMED Notion]
Currated CISMeF NLP mapping
- Xeroderma Pigmentosum [NCIt concept]
- Xeroderma pigmentosum [PASCAL descriptor]
- Xeroderma pigmentosum [ICD-10 Sub-category]
- Xeroderma pigmentosum [ICD-11 Subcategory]
- Xeroderma pigmentosum [ICD-10 Sub-category (who)]
- Xeroderma pigmentosum [MedDRA Preferred Term]
- Xeroderma pigmentosum [HPO term]
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum (disorder) [SNOMED CT concept]
- pigmented xerodermoid [SNOMED Notion]
- xeroderma pigmentosum [DO Concept]
- xeroderma pigmentosum [Disease (Nov.)]
- xeroderma pigmentosum, nos [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum [DO Concept]
False automatic mappings
- Capecitabine/Cisplatin Regimen [NCIt concept]
Indexing information
- DDB1 protein, human [MeSH Supplementary Concept]
- DDB2 protein, human [MeSH Supplementary Concept]
- Ddb1 protein, mouse [MeSH Supplementary Concept]
- Ddb1 protein, rat [MeSH Supplementary Concept]
- Rad30 protein [MeSH Supplementary Concept]
- XPA protein, rat [MeSH Supplementary Concept]
- XPC protein, human [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Xeroderma pigmentosum variant [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal recessive cerebellar ataxia due to a DNA repair defect [ORDO Disease]
- Disease with potential neoplastic degeneration associated with ocular features [ORDO Disease]
- Genetic photodermatosis [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Precancerous lesion of palpebral epidermis [ORDO Disease]
- Progeroid syndrome [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare photodermatosis [ORDO Disease]
- Secondary entropion [ORDO Disease]
MeSH Descriptor(s) used for indexing
- xeroderma pigmentosum group a protein [MeSH Descriptor]
ORDO relation(s)
- Xeroderma pigmentosum [ORDO Disease]
Record concept(s)
- xeroderma pigmentosum [MeSH concept]
Related MeSH Supplementary Concept(s)
- XFE progeroid syndrome [MeSH Supplementary Concept]
- Xeroderma Pigmentosum B-Cockayne Syndrome [MeSH Supplementary Concept]
- Xeroderma Pigmentosum, Type G-Cockayne Syndrome [MeSH Supplementary Concept]
- de Sanctis-Cacchione syndrome [MeSH Supplementary Concept]
- trichothiodystrophy, type 1 [MeSH Supplementary Concept]
- xeroderma pigmentosum IX [MeSH Supplementary Concept]
- xeroderma pigmentosum, autosomal dominant, mild [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group B [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group C [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group D [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group E [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group F [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group G [MeSH Supplementary Concept]
- xeroderma pigmentosum, type 9 [MeSH Supplementary Concept]
- xeroderma pigmentosum, variant type [MeSH Supplementary Concept]
See also
- xeroderma pigmentosum group d protein [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma Pigmentosum [NCIt concept]
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum [ICD-10 Sub-category]
- Xeroderma pigmentosum [HPO term]
- Xeroderma pigmentosum [ICD-10 Sub-category (who)]
- Xeroderma pigmentosum [MedDRA Preferred Term]
- Xeroderma pigmentosum [PASCAL descriptor]
- Xeroderma pigmentosum [ICD-11 Subcategory]
- Xeroderma pigmentosum (disorder) [SNOMED CT concept]
- xeroderma pigmentosum [DO Concept]
- xeroderma pigmentosum [Disease (Nov.)]
- xeroderma pigmentosum, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Pigmented xerodermoid (disorder) [Inactive SNOMED CT concept]
- pigmented xerodermoid [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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