Carbamoyl-phosphate synthetase 1 deficiency 765329008
SNOMED CT code
SNOMED code | 765329008 |
---|---|
name | Carbamoyl-phosphate synthetase 1 deficiency |
status | active |
date introduced | 2018-07-31 |
fully specified name(s) | Carbamoyl-phosphate synthetase 1 deficiency (disorder) |
synonyms |
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attributes - group1 | |
Occurrence | Congenital 255399007 |
parents | |
hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical 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 the urea cycle metabolism 36444000 Carbamoyl-phosphate synthetase 1 deficiency 765329008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inborn error of amino acid metabolism 42930003 Carbamoyl-phosphate synthetase 1 deficiency 765329008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Carbamoyl-phosphate synthetase 1 deficiency 765329008 |
ancestors | sorted most to least specific
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cpt crosswalks |
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