Phytanic acid storage disease 25362006
SNOMED CT code
| SNOMED code | 25362006 |
|---|---|
| name | Phytanic acid storage disease |
| status | active |
| date introduced | 2002-01-31 |
| fully specified name(s) | Phytanic acid storage disease (disorder) |
| synonyms |
|
| attributes - group1 | |
| Associated morphology | Myelin sheath alteration 125495003 |
| Finding site | Myelinated nerve fiber structure 54115001 |
| attributes - group2 | |
| Associated morphology | Dystrophy 4720007 |
| Finding site | Retinal structure 5665001 |
| attributes - group4 | |
| Finding site | Peripheral nervous system structure 3058005 |
| attributes - group5 | |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Finding site | White matter structure of brain and spinal cord 389080008 |
| Associated morphology | Dystrophy 4720007 |
| parents | |
| children | Ataxia co-occurrent and due to phytanic acid storage disease 724769002 |
| 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 Phytanic acid storage disease 25362006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Phytanic acid storage disease 25362006 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 Phytanic acid storage disease 25362006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary retinal dystrophy 41799005 Retinitis pigmentosa 28835009 Phytanic acid storage disease 25362006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Storage disease 34420000 Phytanic acid storage disease 25362006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Hereditary peripheral neuropathy 65017003 Hereditary motor and sensory neuropathy 398100001 Phytanic acid storage disease 25362006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of organic acid metabolism 116021002 Disorder of fatty acid metabolism 39929009 Phytanic acid storage disease 25362006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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