Dyskeratosis congenita (Q60666): Difference between revisions
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Disceratose congênita (DC) é um transtorno multisistêmico caracterizado pela tríade mucocutânea de pigmentação cutânea anormal, distrofia ungueal e leucoplasia mucosa. Uma variedade de outras anormalidades foram relatadas (dentais, gastrointestinais, geniturinárias, imunológicas, neurológicas, oftálmicas, pulmonares e esqueléticas, e canície/queda de cabelos). A insuficiência da medula óssea (MO) é a principal causa de mortalidade precoce, com uma predisposição adicional a malignidade e complicações pulmonares fatais. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1531033936 / rank | |||||||||||||||
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CID11:ID_1531033936 | |||||||||||||||
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dki-india-ID_1531033936 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest 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 |
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| default for all languages | ID_1531033936 |
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| 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. |
Statements
CID11:ID_1531033936
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dki-india-ID_1531033936
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Concluído
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13 August 2026
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