1388793006: Niemann-Pick disease type C1 (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\Niemann-Pick disease, type C\Niemann-Pick disease type C1

\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1

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

\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1
\Inborn error of metabolism\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1

\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipoidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease type C1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

6155702014 Niemann-Pick disease type C1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6155703016 NPC1-gene related Nieman-Pick disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6155704010 Niemann-Pick disease type C1 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Niemann-Pick disease type C1	Is a	Niemann-Pick disease, type C	true	Inferred relationship	Some
Niemann-Pick disease type C1	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets