Cystathionine beta-synthase deficiency 24308003
SNOMED CT code
| SNOMED code | 24308003 |
|---|---|
| name | Cystathionine beta-synthase deficiency |
| status | active |
| date introduced | 2002-01-31 |
| fully specified name(s) | Cystathionine beta-synthase deficiency (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Enzymopathy 78548001 Specific enzyme deficiency 129456006 Cystathionine beta-synthase deficiency 24308003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of organic acid metabolism 116021002 Disorder of amino acid metabolism 44779003 Disorder of amino acid and organic acid metabolism 237911005 Disorder of sulfur-bearing amino acid metabolism 28882002 Cystathionine beta-synthase deficiency 24308003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Cystathionine beta-synthase deficiency 24308003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Cystathionine beta-synthase deficiency 24308003 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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