Galactosylceramide beta-galactosidase deficiency 192782005
SNOMED CT code
| SNOMED code | 192782005 |
|---|---|
| name | Galactosylceramide beta-galactosidase deficiency |
| status | active |
| date introduced | 2002-01-31 |
| fully specified name(s) | Galactosylceramide beta-galactosidase deficiency (disorder) |
| synonyms |
|
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Associated morphology | Myelin sheath alteration 125495003 |
| Finding site | Myelinated nerve fiber structure 54115001 |
| attributes - group2 | |
| Associated morphology | Dystrophy 4720007 |
| Finding site | White matter structure of brain and spinal cord 389080008 |
| parents | |
| children | |
| 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 Galactosylceramide beta-galactosidase deficiency 192782005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Galactosylceramide beta-galactosidase deficiency 192782005 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 Galactosylceramide beta-galactosidase deficiency 192782005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of lipoprotein AND/OR lipid metabolism 48286001 Disorder of lipid storage and metabolism 238017009 Sphingolipidosis 238028008 Galactosylceramide beta-galactosidase deficiency 192782005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Galactosylceramide beta-galactosidase deficiency 192782005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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