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xeroderma pigmentosum-Cockayne syndrome complex

Go to external page http://purl.obolibrary.org/obo/MONDO_0016354

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). [ Orphanet:220295 ]

Synonyms: XP/CS complex

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:Q82.1 (Orphanet:220295/nd)
  • NCIT:C156031 (MONDO:equivalentTo)
  • Orphanet:220295 (MONDO:equivalentTo)
  • icd11.foundation:2002862606 (MONDO:equivalentTo)
  • UMLS:C4304411 (MONDO:equivalentTo)
  • GARD:17130 (MONDO:GARD)
  • MEDGEN:930080 (MONDO:equivalentTo)
Subsets

matrix_llm__txgnn_cancer, gard_rare, ordo_disorder, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__medical_specialization_member, matrix_llm__tag_existing_treatment_false, matrix_llm__is_glucose_dysfunction_false, matrix_included, nord_rare, matrix_llm__tag_qaly_lost_very_high, matrix_llm__is_glucose_dysfunction_member, matrix_llm__is_pathogen_caused_false, rare, orphanet_rare, matrix_llm__tag_qaly_lost_member, matrix_llm__txgnn_inflammatory_disease, matrix_llm__anatomical_skin_disorder, matrix_llm__anatomical_immune_disorder, harrisons_view_integumentary_system_disorder, mondo_top_grouping_syndromic_disease, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__is_cancer_false, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_member, matrix_llm__medical_specialization_dermatology, matrix_llm__txgnn_autoimmune_diseases, matrix_txgnn_grouping_other, matrix_llm__txgnn_neurodegenerative_disease, matrix_llm__is_pathogen_caused_member, matrix_llm__txgnn_member, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, matrix_llm__medical_specialization_genetics_and_genomics, matrix_llm__is_cancer_member, matrix_llm__anatomical_member

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)

exactMatch

http://purl.obolibrary.org/obo/NCIT_C156031

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2002862606

http://www.orpha.net/ORDO/Orphanet_220295

http://linkedlifedata.com/resource/umls/id/C4304411

http://identifiers.org/medgen/930080

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019303

http://purl.obolibrary.org/obo/MONDO_0015333

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0016354

term tracker item

https://github.com/monarch-initiative/mondo/issues/6744

https://github.com/monarch-initiative/mondo/issues/1567

https://github.com/monarch-initiative/mondo/issues/6878

https://github.com/monarch-initiative/mondo/issues/6752

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/6750