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Progressiivinen diafyseaalinen dysplasia
Hierarki: | ∟ ∟ ∟ Progressiivinen diafyseaalinen dysplasia 48 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ CADASIL | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Kerubism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Progressiivinen diafyseaalinen dysplasia 48 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ CADASIL | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Kerubism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | |
Anmärkning: | An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
X |
historyNote*: | 2007(1975)
X |
publicMeSHNote*: | 2007; see OSTEOCHONDRODYSPLASIAS 1985-1990, see BONE DISEASES, DEVELOPMENTAL 1975-1984
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1974-11-11X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | jmpX |
recordOriginator*: | NLMX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Progressiivinen diafyysidysplasia (fi, ersatt) XEngelmannin tauti (fi, ersatt) Camurati-Engelmannin syndrooma (fi, ersatt) Camurati-Engelmannin oireyhtymä (fi, ersatt) Camurati-Engelmann Syndrome (en) Diaphyseal Dysplasia, Progressive (en, ersatt) Engelmann Disease (en, ersatt) Engelmann's Disease (en, ersatt) Camurati-Engelmann Disease (en, ersatt) Dysplasia diaphysialis progressiva (la-FI, ersatt) Morbus Engelmann (la-FI, ersatt) Syndroma Camurati-Engelmann (la-FI, ersatt) |
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