Steroid Metabolism, Inborn Errors [vrozené poruchy metabolismu steroidů]

topical
7
Terms

dědičné poruchy metabolismu steroidů
steroidy - vrozené poruchy metabolismu

 

Congenital Errors of Steroid Metabolism
Inborn Errors of Steroid Metabolism
Steroid Metabolic Diseases, Inborn

Persistent link   https://www.medvik.cz/link/D043202
Definition

Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.

Annotation
coord IM with specific steriod/metab (IM);
DUI
D043202 MeSH Browser
CUI
M0442596
History note
2004
Public note
2004

C Diseases
C16.320.565.176 Amyloidosis, Familial 16
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.753 Progeria 27
C16.320.565.925.249 Adrenal Hyperplasia, Congenital 225
C16.320.565.925.400 Ichthyosis, X-Linked 9
C16.320.565.925.875 Smith-Lemli-Opitz Syndrome 30
C18.452 Metabolic Diseases 1 196
C18.452.648.176 Amyloidosis, Familial 16
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.753 Progeria 27
C18.452.648.925.249 Adrenal Hyperplasia, Congenital 225
C18.452.648.925.400 Ichthyosis, X-Linked 9
C18.452.648.925.875 Smith-Lemli-Opitz Syndrome 30

17-Hydroxysteroid Dehydrogenase Deficiency Disease MeSH Browser

Bile Acid Synthesis Defect, Congenital, 3 Disease MeSH Browser

Bile acid synthesis defect, congenital, 1 Disease MeSH Browser

Bile acid synthesis defect, congenital, 2 Disease MeSH Browser

Cortisone reductase deficiency Disease MeSH Browser

Familial Glucocorticoid Deficiency 1 Disease MeSH Browser

Hypercholanemia, Familial Disease MeSH Browser

Lathosterolosis Disease MeSH Browser

Lyngstadaas syndrome Disease MeSH Browser

Pseudovaginal Perineoscrotal Hypospadias Disease MeSH Browser