1156792000: Atypical Gaucher disease due to saposin C deficiency (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\Gaucher's disease\Atypical Gaucher disease due to saposin C deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Atypical Gaucher disease due to saposin C deficiency (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Atypical Gaucher disease due to saposin C deficiency (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Gaucher's disease\Atypical Gaucher disease due to saposin C deficiency (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Atypical Gaucher disease due to saposin C deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4576198010 Atypical Gaucher disease due to saposin C deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4576199019 Atypical Gaucher disease due to saposin C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

9993241000172110 maladie de Gaucher atypique due à un déficit en saposine C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5143931000172113 atypische ziekte van Gaucher door deficiëntie van activatorproteïne van GBA nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5143941000172118 atypische ziekte van Gaucher door deficiëntie van activatorproteïne van glucocerebrosidase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5143951000172116 atypische ziekte van Gaucher door deficiëntie van sapocine 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
Atypical Gaucher disease due to saposin C deficiency (disorder)	Is a	Gaucher's disease	true	Inferred relationship	Some
Atypical Gaucher disease due to saposin C deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets