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Chondrodysplasia punctata
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Annotaatio: | spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
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historyNote*: | 85; was CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1964-84 (Prov 1964-66)
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Huomautus: | A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
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onlineNote*: | use CHONDRODYSPLASIA PUNCTATA to search CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1966-84 (as Prov 1966)
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publicMeSHNote*: | 85; was CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-84
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activeMeSHYear*: | |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1967-01-01X |
dateRevised*: | 2005-07-18X |
recordAuthorizer*: | agsX |
recordMaintainer*: | agsX |
recordOriginator*: | NLMX |
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Nimikkeet ja vastaavat käsitteet: | Chondodysplasia punctata (sv) XStippled Epiphyses (en, korvattu) Epiphyses, Stippled (en, korvattu) Dysplasia Epiphysialis Punctata (en, korvattu) Conradi-Hunermann Syndrome (en, korvattu) Chondrodystrophia Calcificans Congenita (en, korvattu) Dysplasia epiphysialis punctata (la-FI, korvattu) |
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