| Descriptor English: | Dyskeratosis Congenita | ||||||
| Descriptor Spanish: |
Disqueratosis Congénita
| ||||||
| Descriptor Portuguese: | Disceratose Congênita | ||||||
| Descriptor French: | Dyskératose congénitale | ||||||
| Entry term(s): |
Congenita, X-Linked Dyskeratosis Dyskeratosis Congenita, X Linked Dyskeratosis Congenita, X-Linked Syndrome, Zinsser-Cole-Engman X-Linked Dyskeratosis Congenita X-Linked Dyskeratosis Congenitas Zinsser Cole Engman Syndrome Zinsser-Cole-Engman Syndrome |
||||||
| 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 |
||||||
| 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. |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||||
| Public MeSH Note: | 98 |
||||||
| History Note: | 98 |
||||||
| 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 |
|
|
Dyskeratosis Congenita
- Preferred
Zinsser-Cole-Engman Syndrome
- Narrower
| Concept UI |
M0029508 |
| 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. |
| Preferred term | Dyskeratosis Congenita |
| Concept UI |
M0385213 |
| Preferred term | Zinsser-Cole-Engman Syndrome |
| Entry term(s) |
Congenita, X-Linked Dyskeratosis Dyskeratosis Congenita, X Linked Dyskeratosis Congenita, X-Linked Syndrome, Zinsser-Cole-Engman X-Linked Dyskeratosis Congenita X-Linked Dyskeratosis Congenitas Zinsser Cole Engman Syndrome |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
