Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 722488009
SNOMED CT code
| SNOMED code | 722488009 |
|---|---|
| name | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) |
| synonyms |
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| attributes - group2 | |
| Associated morphology | Degenerative abnormality 107669003 |
| Finding site | Brain structure 12738006 |
| attributes - group1 | |
| Due to | Deficiency of 3-hydroxyisobutyryl CoA hydrolase 124427009 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 722488009 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 branched-chain amino acid metabolism 116020001 Disorder of valine metabolism 444756000 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 722488009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 722488009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 722488009 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Central nervous system complication 87536007 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 722488009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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