Chondrodysplasia Punctata [chondrodysplasia punctata]
- Terms
-
chondrodysplasia punctata Conradiho-Hünermannova
Conradi-Hünermannova nemoc
Conradiho nemoc
-
Chondrodysplasia Punctata 2, X-Linked
Chondrodysplasia Punctata 2, X-Linked Dominant
Chondrodystrophia Calcificans Congenita
Conradi Hunermann Happle Syndrome
Conradi-Hunermann Syndrome
Conradi-Hünermann Syndrome
Conradi-Hunermann-Happle Syndrome
Conradi-Hünermann-Happle Syndrome
Dysplasia Epiphysialis Punctata
Epiphyses, Stippled
Happle Syndrome
Hunermann-Conradi Syndrome
Stippled Epiphyses
X-Linked Chondrodysplasia Punctata 2
X-Linked Dominant Chondrodysplasia Punctata
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.
- Annotation
- spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
- DUI
- D002806 MeSH Browser
- CUI
- M0004308
- History note
- 1985(1964)
- Public note
- 1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- CN
- congenital
- DI
- diagnosis 2
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 1
- GE
- genetics
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine
- VE
- veterinary
- VI
- virology
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X-Linked Chondrodysplasia Punctata 1 Disease MeSH Browser