Cholestanol storage disease 63246000
SNOMED CT code
SNOMED code | 63246000 |
---|---|
name | Cholestanol storage disease |
status | active |
date introduced | 2002-01-31 |
fully specified name(s) | Cholestanol storage disease (disorder) |
synonyms |
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attributes - group3 | |
Finding site | Liver structure 10200004 |
attributes - group1 | |
Finding site | Myelinated nerve fiber structure 54115001 |
Associated morphology | Myelin sheath alteration 125495003 |
attributes - group2 | |
Finding site | White matter structure of brain and spinal cord 389080008 |
Associated morphology | Dystrophy 4720007 |
attributes - group4 | |
Occurrence | Congenital 255399007 |
attributes - group5 | |
Finding site | Body organ structure 113343008 |
Associated morphology | Xanthomatous deposition 75594004 |
parents |
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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 Cholestanol storage disease 63246000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Cholestanol storage disease 63246000 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 Cholestanol storage disease 63246000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Metabolic and genetic disorder affecting the liver 235903001 Synthetic defect of bile acids 235915002 Cholestanol storage disease 63246000 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 Disorder of cholesterol catabolism 238032002 Cholestanol storage disease 63246000 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Cholestanol storage disease 63246000 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 Xanthomatosis 63103006 Cholestanol storage disease 63246000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Cholestanol storage disease 63246000 |
ancestors | sorted most to least specific
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cpt crosswalks |
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