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Descriptor English: Chondrodysplasia Punctata
Descriptor Spanish: Condrodisplasia Punctata
Descriptor Portuguese: Condrodisplasia Punctata
Descriptor French: Chondrodysplasie ponctuée
Entry term(s): Chondrodysplasia Punctata 2, X Linked
Chondrodysplasia Punctata 2, X Linked Dominant
Chondrodysplasia Punctata 2, X-Linked
Chondrodysplasia Punctata 2, X-Linked Dominant
Chondrodystrophia Calcificans Congenita
Conradi Hunermann Happle Syndrome
Conradi Hunermann Syndrome
Conradi Hünermann Happle Syndrome
Conradi Hünermann Syndrome
Conradi-Hunermann Syndrome
Conradi-Hunermann-Happle Syndrome
Conradi-Hunermann-Happle Syndromes
Conradi-Hünermann Syndrome
Conradi-Hünermann Syndromes
Conradi-Hünermann-Happle Syndrome
Conradi-Hünermann-Happle Syndromes
Dysplasia Epiphysialis Punctata
Epiphyses, Stippled
Happle Syndrome
Hunermann Conradi Syndrome
Hunermann-Conradi Syndrome
Stippled Epiphyses
X Linked Chondrodysplasia Punctata 2
X Linked Dominant Chondrodysplasia Punctata
X-Linked Chondrodysplasia Punctata 2
X-Linked Dominant Chondrodysplasia Punctata
Tree number(s): C05.116.099.708.195
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D002806
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.
Annotation: spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984
History Note: 1985(1964)
DeCS ID: 2856
Unique ID: D002806
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1967/01/01
Date of Entry: 1999/01/01
Revision Date: 2016/01/20
Chondrodysplasia Punctata - Preferred
Concept UI M0004308
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.
Preferred term Chondrodysplasia Punctata
Entry term(s) Chondrodystrophia Calcificans Congenita
Dysplasia Epiphysialis Punctata
Epiphyses, Stippled
Stippled Epiphyses
Hunermann-Conradi Syndrome - Related but not broader or narrower
Concept UI M0004309
Preferred term Hunermann-Conradi Syndrome
Entry term(s) Chondrodysplasia Punctata 2, X Linked
Chondrodysplasia Punctata 2, X Linked Dominant
Chondrodysplasia Punctata 2, X-Linked
Chondrodysplasia Punctata 2, X-Linked Dominant
Conradi Hunermann Happle Syndrome
Conradi Hunermann Syndrome
Conradi Hünermann Happle Syndrome
Conradi Hünermann Syndrome
Conradi-Hunermann Syndrome
Conradi-Hunermann-Happle Syndrome
Conradi-Hunermann-Happle Syndromes
Conradi-Hünermann Syndrome
Conradi-Hünermann Syndromes
Conradi-Hünermann-Happle Syndrome
Conradi-Hünermann-Happle Syndromes
Happle Syndrome
Hunermann Conradi Syndrome
X Linked Chondrodysplasia Punctata 2
X Linked Dominant Chondrodysplasia Punctata
X-Linked Chondrodysplasia Punctata 2
X-Linked Dominant Chondrodysplasia Punctata



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