Dyskeratosis congenita (Q60666): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/1531033936 / rank | |||
Normal rank | |||
Revision as of 08:09, 14 August 2026
Dyskeratosis congenita (DC) is a multisystem disorder characterised by the mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. A variety of other abnormalities have been reported (dental, gastrointestinal, genitourinary, hair greying/loss, immunological, neurological, ophthalmic, pulmonary and skeletal). Bone marrow (BM) failure is the principal cause of early mortality with an additional predisposition to malignancy and fatal pulmonary complications.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1531033936 |
||
| English | Dyskeratosis congenita |
Dyskeratosis congenita (DC) is a multisystem disorder characterised by the mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. A variety of other abnormalities have been reported (dental, gastrointestinal, genitourinary, hair greying/loss, immunological, neurological, ophthalmic, pulmonary and skeletal). Bone marrow (BM) failure is the principal cause of early mortality with an additional predisposition to malignancy and fatal pulmonary complications. |
