11380006: Mucopolysaccharidosis (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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis

\Disorder of lysosomal enzyme\Mucopolysaccharidosis

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

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

19694018 Mucopolysaccharidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

388474016 MPS - Mucopolysaccharidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

652628017 Mucopolysaccharidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Mucopolysaccharidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Mucopolysaccharidosis	Finding site	Body system structure	false	Inferred relationship	Some
Mucopolysaccharidosis	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Morquio syndrome	Is a	True	Mucopolysaccharidosis	Inferred relationship	Some
Mucopolysaccharidosis, MPS-VII	Is a	True	Mucopolysaccharidosis	Inferred relationship	Some
Maroteaux-Lamy syndrome	Is a	True	Mucopolysaccharidosis	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	True	Mucopolysaccharidosis	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I	Is a	True	Mucopolysaccharidosis	Inferred relationship	Some
Restrictive cardiomyopathy due to mucopolysaccharidosis	Is a	False	Mucopolysaccharidosis	Inferred relationship	Some
Dilated cardiomyopathy due to mucopolysaccharidosis	Is a	False	Mucopolysaccharidosis	Inferred relationship	Some
Sanfilippo syndrome	Is a	True	Mucopolysaccharidosis	Inferred relationship	Some
Cerebral degeneration in mucopolysaccharidosis (disorder)	Is a	False	Mucopolysaccharidosis	Inferred relationship	Some
Other specified mucopolysaccharidosis	Is a	False	Mucopolysaccharidosis	Inferred relationship	Some
Mucopolysaccharidosis NOS	Is a	False	Mucopolysaccharidosis	Inferred relationship	Some
Restrictive cardiomyopathy due to mucopolysaccharidosis	Associated with	False	Mucopolysaccharidosis	Inferred relationship	Some	2
Dilated cardiomyopathy due to mucopolysaccharidosis	Associated with	False	Mucopolysaccharidosis	Inferred relationship	Some	2
Cerebral degeneration in mucopolysaccharidosis (disorder)	Due to	True	Mucopolysaccharidosis	Inferred relationship	Some	2
Cardiomyopathy due to mucopolysaccharidosis (disorder)	Due to	True	Mucopolysaccharidosis	Inferred relationship	Some	2
Restrictive cardiomyopathy due to mucopolysaccharidosis	Due to	True	Mucopolysaccharidosis	Inferred relationship	Some	2
Dilated cardiomyopathy due to mucopolysaccharidosis	Due to	True	Mucopolysaccharidosis	Inferred relationship	Some	2

Reference Sets