43916004: Mucopolysaccharidosis type VII (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)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-VII

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis, MPS-VII

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-VII
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-VII
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-VII

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-VII
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-VII

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

73228011 Mucopolysaccharidosis, MPS-VII en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
73229015 Sly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
73230013 beta-Glucuronidase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
73231012 GUSB deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
73232017 GUS deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
493710017 Sly disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
493711018 Mucopolysaccharidosis type VII en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
493712013 Beta-glucuronidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493713015 MPS VII - Mucopolysaccharidosis VII en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
780984016 Mucopolysaccharidosis, MPS-VII (disorder) en Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
2971858017 Mucopolysaccharidosis type VII (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5957571000172110 mucopolysaccharidose de type VII fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
9002261000172114 maladie de Sly fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
9002271000172117 déficit en bêta-glucuronidase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4612701000172111 mucopolysacharidose type 7 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4612711000172114 syndroom van Sly 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
Mucopolysaccharidosis, MPS-VII	Is a	Mucopolysaccharidosis	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-VII	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-VII	Occurrence	Congenital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-VII	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets