Cockayne syndrome (Q56856): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||||||||||||||
| (5 intermediate revisions by the same user not shown) | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1206275070 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1206275070 | |||||||||||||||
| Property / CURIE: CID11:ID_1206275070 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1206275070 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1206275070 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 04:33, 14 August 2026
Cockayne syndrome (CS) is a multisystem condition characterised 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1206275070 |
||
| English | Cockayne syndrome |
Cockayne syndrome (CS) is a multisystem condition characterised 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. |
Statements
CID11:ID_1206275070
0 references
dki-india-ID_1206275070
0 references
Concluído
0 references
13 August 2026
0 references
