870313002: perinatale letale ziekte van Gaucher (aandoening)

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\Perinatal lethal Gaucher disease (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Perinatal lethal Gaucher disease (disorder)

\Disorder of foetus and/or newborn\Perinatal disorder (disorder)\Perinatal endocrine and metabolic disorders\Perinatal lethal Gaucher disease (disorder)
\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3968883014 Perinatal lethal Gaucher disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3968884015 Perinatal lethal Gaucher disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

10956191000146115 perinatale letale ziekte van Gaucher nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10956201000146118 perinatale letale ziekte van Gaucher (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Perinatal lethal Gaucher disease (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Perinatal lethal Gaucher disease (disorder)	Is a	Gaucher's disease	true	Inferred relationship	Some
Perinatal lethal Gaucher disease (disorder)	Is a	Perinatal disorder (disorder)	false	Inferred relationship	Some
Perinatal lethal Gaucher disease (disorder)	Occurrence	perinatale periode	false	Inferred relationship	Some	1
Perinatal lethal Gaucher disease (disorder)	Occurrence	Perinatal period of fetus and/or neonate	true	Inferred relationship	Some	1
Perinatal lethal Gaucher disease (disorder)	Is a	Perinatal endocrine and metabolic disorders	true	Inferred relationship	Some
Perinatal lethal Gaucher disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Perinatal lethal Gaucher disease (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets