Cystathionine beta-synthase deficiency

Cystathionine beta-synthase deficiency (disorder)

active

Code	`24308003`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

CBS deficiency
Deficiency of beta-thionase
Deficiency of methylcysteine synthase
Deficiency of serine sulfhydrase
Deficiency of serine sulphydrase

Parents (4)

85995004Autosomal recessive hereditary disorder disorder
28882002Disorder of sulphur-bearing amino acid metabolism disorder
86095007Inborn error of metabolism disorder
129456006Specific enzyme deficiency disorder

Children (0)

None (leaf concept).