Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency 1003375005
SNOMED CT code
| SNOMED code | 1003375005 |
|---|---|
| name | Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency |
| status | active |
| date introduced | 2021-01-31 |
| fully specified name(s) | Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) |
| synonyms | Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency |
| attributes - group1 | |
| Due to | Sphingolipid activator protein 1 deficiency 68390005 |
| attributes - group2 | |
| Finding site | Myelinated nerve fiber structure 54115001 |
| Associated morphology | Myelin sheath alteration 125495003 |
| attributes - group3 | |
| Finding site | White matter structure of brain and spinal cord 389080008 |
| Associated morphology | Dystrophy 4720007 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Neuropathy 386033004 Metabolic neuropathy 1153623003 Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency 1003375005 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 Metachromatic leukodystrophy 396338004 Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency 1003375005 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Central nervous system complication 87536007 Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency 1003375005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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