Xeroderma pigmentosum A

Preferred Label : Xeroderma pigmentosum A;

ICD-11 definition : Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers, and shows typical XP manifestations (photosensitivity of skin with burning, freckling, and skin cancers) associated with a spectrum of mild to severe neurological anomalies (e.g. cognitive deterioration, dysarthria, balance disturbance, areflexia) and sometimes delay of growth and sexual development.;

ICD-11 synonym : XPA - [xeroderma pigmentosum A];

ICD-11 acronym : XPA;

Détails

Origin ID

502959160;

Automatic exact mappings (from CISMeF team)
- ERCC excision repair 4, endonuclease catalytic subunit [HGNC gene]
- XPA Gene [NCIt concept]
- XPA wt Allele [NCIt concept]
- Xeroderma Pigmentosum [NCIt concept]
- Xeroderma pigmentosum [MedDRA Preferred Term]
- Xeroderma pigmentosum [PASCAL descriptor]
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum [ICD-10 Sub-category]
- Xeroderma pigmentosum (disorder) [SNOMED CT concept]
- Xpa, dna damage recognition and repair factor [OMIM gene]
- xeroderma pigmentosum [MeSH concept]
- xeroderma pigmentosum [DO Concept]
- xeroderma pigmentosum [MeSH Descriptor]
Currated CISMeF NLP mapping
- DNA Repair Protein Complementing XP-A Cells [NCIt concept]
- XPA, DNA damage recognition and repair factor [ORDO Gene]
- Xeroderma Pigmentosum, Complementation Group A [NCIt concept]
- Xeroderma pigmentosum, complementation group a [OMIM Phenotype]
- xeroderma pigmentosum group A [DO Concept]

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