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238028008: Sphingolipidosis (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
356771012 Sphingolipidosis en Synonym Active Case insensitive SNOMED CT core
626850015 Sphingolipidosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core


32 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sphingolipidosis Finding site Body system structure false Inferred relationship Some
Sphingolipidosis Occurrence Congenital false Inferred relationship Some
Sphingolipidosis Is a Disorder of lipid storage and metabolism true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Fabry's disease Is a True Sphingolipidosis Inferred relationship Some
Gaucher's disease Is a True Sphingolipidosis Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency Is a True Sphingolipidosis Inferred relationship Some
Metachromatic leukodystrophy Is a False Sphingolipidosis Inferred relationship Some
Globoid cell leucodystrophy, late-onset Is a False Sphingolipidosis Inferred relationship Some
Metachromatic leukodystrophy Is a True Sphingolipidosis Inferred relationship Some
Multiple sulfatase deficiency Is a True Sphingolipidosis Inferred relationship Some
Sphingomyelin/cholesterol lipidosis Is a True Sphingolipidosis Inferred relationship Some
Galactocerebroside beta-galactosidase deficiency - early onset Is a False Sphingolipidosis Inferred relationship Some
Encephalopathy due to prosaposin deficiency Is a True Sphingolipidosis Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Sphingolipidosis Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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