Chondrodysplasia Punctata
"Chondrodysplasia Punctata" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D002806
|
| MeSH Number(s) |
C05.116.099.708.195
|
| Concept/Terms |
Chondrodysplasia Punctata- Chondrodysplasia Punctata
- Stippled Epiphyses
- Epiphyses, Stippled
- Chondrodystrophia Calcificans Congenita
- Dysplasia Epiphysialis Punctata
Hunermann-Conradi Syndrome- Hunermann-Conradi Syndrome
- Hunermann Conradi Syndrome
- Syndrome, Hunermann-Conradi
- Happle Syndrome
- Syndrome, Happle
- Conradi-Hunermann Syndrome
- Conradi Hunermann Syndrome
- Syndrome, Conradi-Hunermann
- Conradi-Hunermann-Happle Syndrome
- Conradi Hunermann Happle Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata".
Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata".
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