NAD(P)HX epimerase deficiency 1251447008
SNOMED CT code
| SNOMED code | 1251447008 |
|---|---|
| name | NAD(P)HX epimerase deficiency |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | NAD(P)HX epimerase deficiency (disorder) |
| synonyms |
|
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Finding site | Brain structure 12738006 |
| Associated morphology | Degenerative abnormality 107669003 |
| attributes - group2 | |
| Finding site | Spinal cord structure 2748008 |
| Associated morphology | Degenerative abnormality 107669003 |
| 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 NAD(P)HX epimerase deficiency 1251447008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 NAD(P)HX epimerase deficiency 1251447008 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of spinal cord 299733008 Myelopathy 48522003 Encephalomyelopathy 370502006 NAD(P)HX epimerase deficiency 1251447008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 NAD(P)HX epimerase deficiency 1251447008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 NAD(P)HX epimerase deficiency 1251447008 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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