70737009: Mucopolysaccharidosis type II (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II

\Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Genetic disease\Hereditary disease\X-linked recessive hereditary disease\Mucopolysaccharidosis, MPS-II
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Disease\Metabolic disease\Enzymopathy\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II

Status: current. Date: 31-Jan 2002

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-II	Is a	Mucopolysaccharidosis	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Mucopolysaccharidosis, MPS-II	Is a	X-linked recessive hereditary disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Mucopolysaccharidosis, MPS-II	Is a	Metabolic and genetic disorder affecting the liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Mucopolysaccharidosis, MPS-II	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Mucopolysaccharidosis, MPS-II	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hunter's syndrome, mild form	Is a	True	Mucopolysaccharidosis, MPS-II	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Hunter's syndrome, severe form	Is a	True	Mucopolysaccharidosis, MPS-II	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
117498017	Mucopolysaccharidosis, MPS-II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
117499013	Hunter's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
117500016	Sulfoiduronidate sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
117501017	Iduronate 2-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501649012	Hunter syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501650012	Hunter disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501651011	MPSII - Mucopolysaccharidosis type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501652016	Mucopolysaccharidosis type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501653014	MPS 2 - Mucopolysaccharidosis 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501654015	Deficiency of iduronate-2-sulfatase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501655019	Iduronate 2-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501656018	Sulphoiduronidate sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501657010	Iduronate sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501658017	Sulpho-iduronate sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501659013	Iduronate sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501660015	Sulfo-iduronate sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501661016	Deficiency of iduronate-2-sulphatase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
810825011	Mucopolysaccharidosis, MPS-II (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971761011	Mucopolysaccharidosis type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core