Preferred Label : Dyskeratosis congenita;
ICD-11 definition : Dyskeratosis congenita (DC) is a multisystem disorder characterized 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.;
Origin ID : 1531033936;
UMLS CUI : C0265965;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Dyskeratosis congenita (DC) is a multisystem disorder characterized 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.
