72488000: Niemann-Pick disease, type C, chronic form (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 C, chronic form

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

\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 C, chronic form
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease, type C, chronic form
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease, type C, chronic form
\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 C, chronic form
\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 C, chronic form
\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 C, chronic form

\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 C, chronic form
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C\Niemann-Pick disease, type C, chronic form

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

Descriptions:

Id Description Lang Type Status Case? Module

120411013 Niemann-Pick disease, type C, chronic form en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
812770018 Niemann-Pick disease, type C, chronic form (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5794901000172115 maladie de Niemann-Pick type C chronique fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4996371000172117 chronische vorm van ziekte van Niemann-Pick type C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Niemann-Pick disease, type C, chronic form	Is a	Niemann-Pick disease, type C	true	Inferred relationship	Some
Niemann-Pick disease, type C, chronic form	Associated morphology	Foam cell	false	Inferred relationship	Some
Niemann-Pick disease, type C, chronic form	Finding site	Body system structure	false	Inferred relationship	Some
Niemann-Pick disease, type C, chronic form	Associated morphology	Niemann-Pick cell	false	Inferred relationship	Some
Niemann-Pick disease, type C, chronic form	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets