Počet záznamov: 1
chondrodysplasia punctata
Č. záznamu d002806 Dátum 06.06.2025 Typ M - MESH Tematický termín chondrodysplasia punctata Iný termín Angličtina (Pseudonym) Chondrodystrophia Calcificans Congenita
Angličtina (Pseudonym) Conradi-Hunermann Syndrome
Angličtina (Pseudonym) Dysplasia Epiphysialis Punctata
Angličtina (Pseudonym) Epiphyses, Stippled
Angličtina (Pseudonym) Stippled Epiphyses
Slovenčina (Pseudonym) chondrodysplázia kalcifikovaná kongenitálna
Slovenčina (Pseudonym) Conradiho-Hünermanov syndróm
Slovenčina (Pseudonym) dysplasia epiphysialis punctata
Slovenčina (Pseudonym) chondrodysplasia calcificans congenita
MDT C05.116.099.708.195 Poznámka 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. 
predmetové heslo
Počet záznamov: 1