| cystathioninurie (aandoening) | | cystathioninurie | | Cystathioninuria | | Cystathionine gamma-lyase deficiency syndrome
CTH - Cystathioninuria
| | A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. |
| | Id | 13003007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 212 |
| SNOMED CT to ICD-10 extended map | | Target | E72.1 | | Rule | TRUE | | Advice | ALWAYS E72.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
