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Dyskeratosis Congenita
Hierarchy: | ∟ ∟ ∟ ∟ Dyskeratosis Congenita 45 coordinate concepts∟ ∟ ∟ ∟ Dyskeratosis Congenita 45 coordinate concepts∟ ∟ ∟ ∟ Dyskeratosis Congenita 45 coordinate concepts∟ ∟ ∟ ∟ Dyskeratosis Congenita 45 coordinate concepts∟ ∟ ∟ ∟ Dyskeratosis Congenita 45 coordinate conceptsX |
Broader terms: | ∟ ∟ ∟ ∟ Dyskeratosis Congenita ∟ ∟ ∟ ∟ Dyskeratosis Congenita ∟ ∟ ∟ ∟ Dyskeratosis Congenita ∟ ∟ ∟ ∟ Dyskeratosis Congenita ∟ ∟ ∟ ∟ Dyskeratosis Congenita |
historyNote*: | 98
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publicMeSHNote*: | 98
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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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activeMeSHYear*: | |
dateCreated*: | 1997-06-20X |
dateEstablished*: | 1998-01-01X |
dateRevised*: | 2002-07-03X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | nnsX |
recordOriginator*: | NDWX |
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Labels and equivalent concepts: | Perinnöllinen dyskeratoosi (fi) XDyskeratosis Congenita, X-Linked (en, replaced) Disqueratosis Congénita (es) Disqueratosis Congénita Ligada al X (es, replaced) Síndrome de Zinsser-Cole-Engman (es, replaced) Disqueratosis Congénita Ligada a X (es, replaced) Zinsser-Cole-Engman Syndrom (de, replaced) Dyskeratosis congenita, X-chromosomale (de, replaced) |
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