Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008
SNOMED CT code
| SNOMED code | 30287008 |
|---|---|
| name | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| status | active |
| date introduced | 2002-01-31 |
| fully specified name(s) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Finding site | Central nervous system structure 21483005 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008 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 the urea cycle metabolism 36444000 Disorder of ornithine metabolism 237928008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of acid-base balance 26436007 Acidemia 70731005 Aminoacidemia 46556004 Hyperornithinemia 33985005 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008 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 the urea cycle metabolism 36444000 Hyperammonemia 9360008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30287008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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