58459009: Sphingomyelin/cholesterol lipidosis (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sphingomyelin/cholesterol lipidosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipoidosis\Sphingomyelin/cholesterol lipidosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Sphingomyelin/cholesterol lipidosis

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis

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

Descriptions:

Id Description Lang Type Status Case? Module

97145019 Sphingomyelin/cholesterol lipidosis en Synonym Active Entire term case insensitive SNOMED CT core module
97146018 Neuronal cholesterol lipidosis en Synonym Active Entire term case insensitive SNOMED CT core module
97147010 Sphingolipidosis en Synonym Inactive Only initial character case insensitive SNOMED CT core module
97148017 Sphingomyelin/cholesterol lipidosis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
97149013 Sphingomyelinase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
97150013 Niemann-Pick disease, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
97151012 Sphingomyelin lipidosis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
97152017 Neuronal cholesterol lipidosis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
97153010 Sphingolipidosis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
97154016 Niemann-Pick disease en Synonym Active Entire term case sensitive SNOMED CT core module
97155015 Sphingomyelin lipidosis en Synonym Active Entire term case insensitive SNOMED CT core module
797193019 Sphingomyelin/cholesterol lipidosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sphingomyelin/cholesterol lipidosis	Is a	Lipoidosis	true	Inferred relationship	Existential restriction modifier
Sphingomyelin/cholesterol lipidosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Sphingomyelin/cholesterol lipidosis	Is a	Lipid storage disease	true	Inferred relationship	Existential restriction modifier
Sphingomyelin/cholesterol lipidosis	Is a	Sphingolipidosis	true	Inferred relationship	Existential restriction modifier
Sphingomyelin/cholesterol lipidosis	Associated morphology	Niemann-Pick cell	false	Inferred relationship	Existential restriction modifier
Sphingomyelin/cholesterol lipidosis	Associated morphology	Foam cell	false	Inferred relationship	Existential restriction modifier
Sphingomyelin/cholesterol lipidosis	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Sphingomyelin/cholesterol lipidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Niemann-Pick disease, type D	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Existential restriction modifier
Niemann-Pick disease, type B	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Existential restriction modifier
Niemann-Pick disease, type A	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Existential restriction modifier
Niemann-Pick disease, type C	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Existential restriction modifier
Niemann-Pick disease, type E	Is a	False	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Existential restriction modifier
Cerebral degeneration in Niemann-Pick disease	Due to	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets