| Descriptor English: | Chondrodysplasia Punctata, Rhizomelic | ||||||
| Descriptor Spanish: |
Condrodisplasia Punctata Rizomélica
| ||||||
| Descriptor Portuguese: | Condrodisplasia Punctata Rizomélica | ||||||
| Descriptor French: | Chondrodysplasie ponctuée rhizomélique | ||||||
| Entry term(s): |
Chondrodysplasia Punctata, Rhizomelic Form Chondrodysplasia Punctatas, Rhizomelic Punctata, Rhizomelic Chondrodysplasia Punctatas, Rhizomelic Chondrodysplasia Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctatas |
||||||
| Tree number(s): |
C05.116.099.708.195.200 C16.320.565.663.265 C18.452.648.663.265 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D018902 | ||||||
| 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) |
||||||
| Annotation: | a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification 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 |
||||||
| Previous Indexing: |
Chondrodysplasia Punctata (1971-1995) |
||||||
| Public MeSH Note: | 1996 |
||||||
| History Note: | 1996 |
||||||
| DeCS ID: | 32807 | ||||||
| Unique ID: | D018902 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1996/01/01 | ||||||
| Date of Entry: | 1994/12/27 | ||||||
| Revision Date: | 2015/06/08 |
|
|
Chondrodysplasia Punctata, Rhizomelic
- Preferred
| 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) |
| Preferred term | Chondrodysplasia Punctata, Rhizomelic |
| Entry term(s) |
Chondrodysplasia Punctata, Rhizomelic Form Chondrodysplasia Punctatas, Rhizomelic Punctata, Rhizomelic Chondrodysplasia Punctatas, Rhizomelic Chondrodysplasia Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctatas |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
