Cockayne syndrome

Preferred Label : Cockayne syndrome;

ICD-11 definition : Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. The annual incidence of CS is close to 1/200,000 in European countries. Disease severity and the age of onset are variable. In classical type I CS, the first symptoms usually appear during the first year of life. Early-onset cases with more severe symptoms (type II) and late-onset cases with milder symptoms (type III) have also been described. CS belongs to the family of NER (nucleotide excision repair)-related disorders.;

Details

Origin ID

1206275070;

Automatic exact mappings (from CISMeF team)
- 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 [Radlex concept]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome [PASCAL descriptor]
- Cockayne syndrome [Disease (Nov.)]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne syndrome a [OMIM Phenotype]
- Cockayne's syndrome [MedDRA Preferred Term]
- cockayne syndrome [MeSH Descriptor]
- cockayne syndrome [SNOMED Notion]
- cockayne syndrome [MeSH concept]
Validated automatic mappings to BTNT
- Cockayne Syndrome Type A [NCIt concept]

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