The way property values are displayed:
The way concept relations are shown:
The way concept relations are shown:
Chondrodysplasia Punctata
Hierarchy: | ∟ ∟ ∟ ∟ ∟ Chondrodysplasia Punctata 15 coordinate concepts1 subordinate concept∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | |
Narrower terms: | |
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 |
Scope note: | 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 |
activeMeSHYear*: | |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1967-01-01X |
dateRevised*: | 2005-07-18X |
recordAuthorizer*: | agsX |
recordMaintainer*: | agsX |
recordOriginator*: | NLMX |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Stippled Epiphyses (en, replaced) XEpiphyses, Stippled (en, replaced) Dysplasia Epiphysialis Punctata (en, replaced) Conradi-Hunermann Syndrome (en, replaced) Chondrodystrophia Calcificans Congenita (en, replaced) Condrodisplasia Punctata (es) διάστικτη χονδροδυσπλασία (el) Condrodistrofia Calcificante Congénita (es, replaced) Displasia Epifisaria Punctata (es, replaced) Síndrome de Conradi-Hunermann (es, replaced) Epífisis Punteada (es, replaced) Conradi-Hünermann-Syndrom (de, replaced) Chondroplasia punctata (de, replaced) Dysplasia epiphysialis punctata (de, replaced) Epiphysäre Kalkspritzereinlagerungen (de, replaced) Stippled Epiphyses (de, replaced) Epiphyses, Stippled (de, replaced) Chondrodystrophia calcificans congenita (de, replaced) |
Share: |
Loading results...