Visningssätt för begreppens/termernas förhållanden:
Det sätt begreppsrelationer visas:
Det sätt begreppsrelationer visas:
Rizomelisk chondrodysplasia punctata
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata 5 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata 5 sidobegrepp∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata ∟ ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata ∟ ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata ∟ ∟ ∟ ∟ ∟ Rizomelisk chondrodysplasia punctata |
Anmärkning: | Chondrodysplasia Punctata (1971-1995)X |
Anmärkning: | 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)
X |
Annotation: | a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
X |
historyNote*: | 96
X |
publicMeSHNote*: | 96
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1994-12-27X |
dateEstablished*: | 1996-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | AGSX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Ritsomeelinen chondrodysplasia punctata (fi) XChondrodysplasia Punctata, Rhizomelic (en) Rhizomelic Chondrodysplasia Punctata (en, ersatt) |
Dela: |
Laddar resultat...