70737009: Mucopolysaccharidosis type II (disorder)

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

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

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Mucopolysaccharidosis, MPS-II

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\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\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Mucopolysaccharidosis, MPS-II
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\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\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-II	Is a	Mucopolysaccharidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucopolysaccharidosis, MPS-II	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mucopolysaccharidosis, MPS-II	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hunter's syndrome, mild form	Is a	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Existential restriction modifier (core metadata concept)
Hunter's syndrome, severe form	Is a	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral degeneration in Hunter's disease	Is a	False	Mucopolysaccharidosis, MPS-II	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral degeneration in Hunter's disease	Due to	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
2971761011	Mucopolysaccharidosis type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character case insensitive (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	Only initial character 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	Only initial character case insensitive (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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Active	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
3438821001000115	Mukopolysaccharidose Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
988091000172113	mucopolysaccharidose type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
989711000172113	déficit en iduronate 2-sulfatase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
988091000172113	mucopolysaccharidose type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
989711000172113	déficit en iduronate 2-sulfatase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438821001000115	Mukopolysaccharidose Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module