Prev Term: inborn lysosomal enzyme disorder
Next Term: inborn metabolism disorder clinical registry
inborn metabolism disorder
Broader Terms:
genetic disorder
Broader Terms:
metabolism disorder
Narrower Terms:
alpha 1 antitrypsin deficiency
Narrower Terms:
congenital adrenal hyperplasia
Narrower Terms:
glucose 6 phosphate dehydrogenase deficiency
Narrower Terms:
hereditary hyperbilirubinemia
Narrower Terms:
hypophosphatasia
Narrower Terms:
inborn aminoacid metabolism disorder
Narrower Terms:
inborn biological transport disorder
Narrower Terms:
inborn carbohydrate metabolism disorder
Narrower Terms:
inborn immunodeficiency
Narrower Terms:
inborn lipid /lipoprotein disorder
Narrower Terms:
inborn lysosomal enzyme disorder
Narrower Terms:
inborn metal metabolism disorder
Narrower Terms:
phosphoglycerate kinase deficiency
Narrower Terms:
pseudohypoparathyroidism
Narrower Terms:
purine /pyrimidine metabolism disorder
Narrower Terms:
pyruvate kinase deficiency
Related Terms:
amyloidosis
Scope Note:
errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Term Number:
1849-0057
Send your comments to: Melody Lowe