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📋Overview
Homocystinuria is a rare inherited metabolic disorder characterized by an abnormal accumulation of homocysteine due to defects in enzymes involved in methionine metabolism, most commonly cystathionine beta-synthase deficiency. It is a well-recognized condition in modern medicine and is classified under inborn errors of metabolism affecting amino acid processing.
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Medical codes (for reference)
UMLS CUI: C0019880ICD-10-CM
E72.11
MeSH
D006712
SNOMED CT (US)
11282001
Codes are provided for reference and interoperability. They are not a diagnosis.
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