Xeroderma Pigmentosum-Cockayne Syndrome Complex

Preferred Label : Xeroderma Pigmentosum-Cockayne Syndrome Complex;

NCIt synonyms : XP-CS; Xeroderma Pigmentosum/Cockayne Syndrome; XP/CS;

NCIt definition : A condition characterized by the cutaneous features of xeroderma pigmentosum and the systemic and neurological features of Cockayne syndrome.;

NCI Metathesaurus CUI : CL516453;

Details

Origin ID

C156031;

UMLS CUI

C4304411;

Automatic exact mappings (from CISMeF team)
- Xeroderma pigmentosum C [ICD-11 More detail]
- Xpc complex subunit, dna damage recognition and repair factor [OMIM gene]
- xeroderma pigmentosum group C [DO Concept]
Currated CISMeF NLP mapping
- Xeroderma pigmentosum and Cockayne syndrome complex (disorder) [SNOMED CT concept]
- Xeroderma pigmentosum-Cockayne syndrome complex [ICD-11 More detail]
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma pigmentosum and Cockayne syndrome complex (disorder) [SNOMED CT concept]
- Xeroderma pigmentosum-Cockayne syndrome complex [ICD-11 More detail]
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- ERCC2 Gene [NCIt concept]
- ERCC3 Gene [NCIt concept]
- ERCC4 Gene [NCIt concept]
- ERCC5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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