Concept information
Preferred term
Inborn error of metabolism
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Brachytelephalangic chondrodysplasia punctata (disorder)
- CK syndrome
- Congenital muscular dystrophy without intellectual disability (disorder)
- Disorder of pyruvate metabolism and mitochondrial respiratory chain
- Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder)
- Hereditary hypercarotenemia and vitamin A deficiency (disorder)
- Inherited disorder of thyroid metabolism
- LAL (Lysosomal acid lipase) deficiency
- Lipoyl transferase 1 deficiency (disorder)
- Phenylketonuria
- Premature aging syndrome (disorder)
- Primary hyperoxaluria
- Synthetic defect of bile acids
Occurrence
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/86095007
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