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238028008: Sphingolipidosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

32 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sphingolipidosis Is a Disorder of lipid storage and metabolism true Inferred relationship Existential restriction modifier
Sphingolipidosis Finding site Body system structure false Inferred relationship Existential restriction modifier
Sphingolipidosis Occurrence Congenital false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Glucosylceramide beta-glucosidase deficiency Is a True Sphingolipidosis Inferred relationship Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency Is a True Sphingolipidosis Inferred relationship Existential restriction modifier
Metachromatic leucodystrophy Is a False Sphingolipidosis Inferred relationship Existential restriction modifier
Galactocerebroside beta-galactosidase deficiency - early onset Is a False Sphingolipidosis Inferred relationship Existential restriction modifier
Fabry's disease Is a True Sphingolipidosis Inferred relationship Existential restriction modifier
Globoid cell leukodystrophy, late-onset Is a False Sphingolipidosis Inferred relationship Existential restriction modifier
Multiple sulfatase deficiency Is a True Sphingolipidosis Inferred relationship Existential restriction modifier
Sphingomyelin/cholesterol lipidosis Is a True Sphingolipidosis Inferred relationship Existential restriction modifier
Metachromatic leucodystrophy Is a True Sphingolipidosis Inferred relationship Existential restriction modifier
Encephalopathy due to prosaposin deficiency Is a True Sphingolipidosis Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Sphingolipidosis Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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