58459009: Sphingomyelin/cholesterol lipidosis (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis

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

\Fetal and/or neonatal disorder\Congenital disease\...

\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis

\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\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

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

Descriptions:

Id Description Lang Type Status Case? Module

97145019 Sphingomyelin/cholesterol lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

97146018 Neuronal cholesterol lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

97149013 Sphingomyelinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

97154016 Niemann-Pick disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

97155015 Sphingomyelin lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

797193019 Sphingomyelin/cholesterol lipidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4581311000241116 lipidose à sphingomyéline et/ou cholestérol fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Niemann-Pick disease, type D	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
Niemann-Pick disease, type B	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
Niemann-Pick disease, type A	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
Niemann-Pick disease, type C	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
maladie de Niemann-Pick type E	Is a	False	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some
Cerebral degeneration in Niemann-Pick disease	Due to	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some	2
A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.	Is a	True	Sphingomyelin/cholesterol lipidosis	Inferred relationship	Some

This concept is not in any reference sets