Visningssätt för begreppens/termernas förhållanden:
Det sätt begreppsrelationer visas:
Det sätt begreppsrelationer visas:
Chondodysplasia punctata
Hierarki: | |
Bredare villkor: | |
Snävare villkor: | |
Anmärkning: | 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.
X |
Annotation: | spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
X |
historyNote*: | 85; was CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1964-84 (Prov 1964-66)
X |
onlineNote*: | use CHONDRODYSPLASIA PUNCTATA to search CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1966-84 (as Prov 1966)
X |
publicMeSHNote*: | 85; was CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-84
X |
activeMeSHYear*: | |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1967-01-01X |
dateRevised*: | 2005-07-18X |
recordAuthorizer*: | agsX |
recordMaintainer*: | agsX |
recordOriginator*: | NLMX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Chondrodysplasia punctata (fi) XChondrodysplasia Punctata (en) Stippled Epiphyses (en, ersatt) Epiphyses, Stippled (en, ersatt) Dysplasia Epiphysialis Punctata (en, ersatt) Conradi-Hunermann Syndrome (en, ersatt) Chondrodystrophia Calcificans Congenita (en, ersatt) Chondrodysplasia punctata (la-FI) Dysplasia epiphysialis punctata (la-FI, ersatt) |
Dela: |
Laddar resultat...