MeSH Browser

MeSH Heading: Chondrodysplasia Punctata, Rhizomelic
Tree Number(s): C05.116.099.708.195.200; C16.320.565.663.265; C18.452.648.663.265
Unique ID: D018902
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D018902
Annotation: a form of osteochondrodysplasia with stippled epiphyses; do not use /‌congen & do not coord with INFANT, NEWBORN, DISEASES
Scope Note: An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Entry Term(s): Chondrodysplasia Punctata, Rhizomelic Form; Rhizomelic Chondrodysplasia Punctata
Previous Indexing: Chondrodysplasia Punctata (1971-1995)
Public MeSH Note: 1996
History Note: 1996
Date Established: 1996/01/01
Date of Entry: 1994/12/27
Revision Date: 2015/06/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

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: M0028265
Scope Note: An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Terms: Chondrodysplasia Punctata, Rhizomelic Preferred Term
Term UI T056337
Date01/01/1999
LexicalTag NON
ThesaurusID; Rhizomelic Chondrodysplasia Punctata
Term UI T056336
Date08/19/1994
LexicalTag NON
ThesaurusID; Chondrodysplasia Punctata, Rhizomelic Form
Term UI T751461
Date05/18/2009
LexicalTag NON
ThesaurusID

Chondrodysplasia Punctata, Rhizomelic MeSH Descriptor Data 2024