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Descriptor English: | Dyskeratosis Congenita | ||||||
Descriptor Spanish: |
Disqueratosis Congénita
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Descriptor Portuguese: | Disceratose Congênita | ||||||
Descriptor French: | Dyskératose congénitale | ||||||
Entry term(s): |
Dyskératose congénitale de Zinsser-Cole-Engman Dyskératose congénitale de Zinsser-Engman-Cole Dyskératose congénitale liée au chromosome X Dyskératose congénitale liée à l'X Syndrome de Zinsser-Cole-Engman Syndrome de Zinsser-Engman-Cole |
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Tree number(s): |
C15.378.190.223.500.750 C16.131.831.150 C16.320.322.108 C16.320.850.235 C17.800.804.150 C17.800.827.235 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D019871 | ||||||
Scope note: | A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin. |
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Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CO complications DG imagerie diagnostique DH diétothérapie DI diagnostic DT traitement médicamenteux EC économie EH ethnologie EM embryologie EN enzymologie EP épidémiologie ET étiologie GE génétique HI histoire IM immunologie ME métabolisme MI microbiologie MO mortalité NU soins infirmiers PA anatomopathologie PC prévention et contrôle PP physiopathologie PS parasitologie PX psychologie RH rééducation et réadaptation RT radiothérapie SU chirurgie TH thérapie UR urine VE médecine vétérinaire VI virologie |
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DeCS ID: | 33362 | ||||||
Unique ID: | D019871 | ||||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
Date Established: | 1998/01/01 | ||||||
Date of Entry: | 1997/06/20 | ||||||
Revision Date: | 2015/06/18 |
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Dyskératose congénitale
- Preferred
Syndrome de Zinsser-Cole-Engman
- Narrower
Concept UI |
M0029508 |
Preferred term | Dyskératose congénitale |
Concept UI |
M0385213 |
Preferred term | Syndrome de Zinsser-Cole-Engman |
Entry term(s) |
Dyskératose congénitale de Zinsser-Cole-Engman Dyskératose congénitale de Zinsser-Engman-Cole Dyskératose congénitale liée au chromosome X Dyskératose congénitale liée à l'X Syndrome de Zinsser-Engman-Cole |
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