43916004: Mucopolysaccharidosis type VII (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type VII

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis type VII

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type VII
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type VII

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type VII

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

Descriptions:

Id Description Lang Type Status Case? Module

73228011 Mucopolysaccharidosis, MPS-VII en Synonym Active Only initial character case insensitive SNOMED CT core module

73229015 Sly syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

73230013 beta-Glucuronidase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

73231012 GUSB deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

73232017 GUS deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

493710017 Sly disease en Synonym Active Entire term case sensitive SNOMED CT core module

493711018 Mucopolysaccharidosis type VII en Synonym Active Only initial character case insensitive SNOMED CT core module

493712013 Beta-glucuronidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

493713015 MPS VII - Mucopolysaccharidosis VII en Synonym Active Entire term case sensitive SNOMED CT core module

2971858017 Mucopolysaccharidosis type VII (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis type VII	Is a	Mucopolysaccharidosis	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type VII	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type VII	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mucopolysaccharidosis type VII	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets