MeSH Browser

MeSH Heading: Chondrodysplasia Punctata
Tree Number(s): C05.116.099.708.195
Unique ID: D002806
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D002806
Annotation: spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
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.
Entry Term(s): Chondrodysplasia Punctata 2, X-Linked; Chondrodysplasia Punctata 2, X-Linked Dominant; Chondrodystrophia Calcificans Congenita; Conradi Hunermann Happle Syndrome; Conradi-Hunermann Syndrome; Conradi-Hunermann-Happle Syndrome; Conradi-Hünermann 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
Public MeSH Note: 1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984
History Note: 1985(1964)
Date Established: 1967/01/01
Date of Entry: 1999/01/01
Revision Date: 2016/01/20

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

congenital (CN)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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.
Terms: Chondrodysplasia Punctata Preferred Term
Term UI T008178
Date01/01/1999
LexicalTag NON
ThesaurusID; Chondrodystrophia Calcificans Congenita
Term UI T008179
Date04/06/1984
LexicalTag NON
ThesaurusID UNK (19XX); Dysplasia Epiphysialis Punctata
Term UI T008180
Date03/29/1974
LexicalTag NON
ThesaurusID UNK (19XX); Epiphyses, Stippled
Term UI T008181
Date03/29/1974
LexicalTag NON
ThesaurusID UNK (19XX); Stippled Epiphyses
Term UI T008182
Date03/29/1974
LexicalTag NON
ThesaurusID UNK (19XX)

Chondrodysplasia Punctata MeSH Descriptor Data 2024