Cockayne Syndrome

Preferred Label : Cockayne Syndrome;

Definition : A syndrome characterized by multiple system abnormalities including dwarfism; photosensitivity disorders; premature aging; and hearing loss. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled dna repair processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; csa) is early childhood onset in the second year of life; type II (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. [MeSH];

UMLS CUI (RADLEX) : C0009207;

Details

Origin ID

RID5131;

UMLS CUI

C0009207;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- ERCC excision repair 5, endonuclease [ORDO Gene]
- ERCC excision repair 5, endonuclease [HGNC gene]
Currated CISMeF NLP mapping
- Cockayne Syndrome [NCIt concept]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome [PASCAL descriptor]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome [Disease (Nov.)]
- Cockayne syndrome [ICD-11 More detail]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne syndrome a [OMIM Phenotype]
- Cockayne's syndrome [MedDRA Preferred Term]
- cockayne syndrome [SNOMED Notion]
- cockayne syndrome [MeSH concept]
- cockayne syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cockayne Syndrome [NCIt concept]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne's syndrome [MedDRA Preferred Term]
- Neill-Dingwall syndrome [MedDRA LLT]
- cockayne syndrome [MeSH Descriptor]
- cockayne syndrome [MeSH concept]
- cockayne syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Cockayne Syndrome Type A [NCIt concept]

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