70737009: Mucopolysaccharidosis type II (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II

\Digestive system finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Mucopolysaccharidosis type II
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type II
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Mucopolysaccharidosis type II
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Mucopolysaccharidosis type II
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Mucopolysaccharidosis type II
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Mucopolysaccharidosis type II
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type II
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis type II
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type II
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type II

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

117498017 Mucopolysaccharidosis, MPS-II en Synonym Active Only initial character case insensitive SNOMED CT core module
117499013 Hunter's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
117500016 Sulfoiduronidate sulfatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
117501017 Iduronate 2-sulfatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
501649012 Hunter syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
501650012 Hunter disease en Synonym Active Entire term case sensitive SNOMED CT core module
501651011 MPSII - Mucopolysaccharidosis type II en Synonym Active Entire term case sensitive SNOMED CT core module
501652016 Mucopolysaccharidosis type II en Synonym Active Only initial character case insensitive SNOMED CT core module
501653014 MPS 2 - Mucopolysaccharidosis 2 en Synonym Active Entire term case sensitive SNOMED CT core module
501654015 Deficiency of iduronate-2-sulfatase en Synonym Active Entire term case insensitive SNOMED CT core module
501655019 Iduronate 2-sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
501656018 Sulphoiduronidate sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
501657010 Iduronate sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
501658017 Sulpho-iduronate sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
501659013 Iduronate sulfatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
501660015 Sulfo-iduronate sulfatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
501661016 Deficiency of iduronate-2-sulphatase en Synonym Active Entire term case insensitive SNOMED CT core module
810825011 Mucopolysaccharidosis, MPS-II (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2971761011 Mucopolysaccharidosis type II (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 II	Is a	Mucopolysaccharidosis	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type II	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type II	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type II	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type II	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type II	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mucopolysaccharidosis type II	Finding site	Liver structure	true	Inferred relationship	Existential restriction modifier	2
Mucopolysaccharidosis type II	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hunter's syndrome, mild form	Is a	True	Mucopolysaccharidosis type II	Inferred relationship	Existential restriction modifier
Hunter's syndrome, severe form	Is a	True	Mucopolysaccharidosis type II	Inferred relationship	Existential restriction modifier
Cerebral degeneration in Hunter's disease	Is a	False	Mucopolysaccharidosis type II	Inferred relationship	Existential restriction modifier
Cerebral degeneration in Hunter's disease	Due to	True	Mucopolysaccharidosis type II	Inferred relationship	Existential restriction modifier	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	Active	Only initial character case insensitive	SNOMED CT core module
117499013	Hunter's syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
117500016	Sulfoiduronidate sulfatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
117501017	Iduronate 2-sulfatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501649012	Hunter syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
501650012	Hunter disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
501651011	MPSII - Mucopolysaccharidosis type II	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
501652016	Mucopolysaccharidosis type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
501653014	MPS 2 - Mucopolysaccharidosis 2	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
501654015	Deficiency of iduronate-2-sulfatase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501655019	Iduronate 2-sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501656018	Sulphoiduronidate sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501657010	Iduronate sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501658017	Sulpho-iduronate sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501659013	Iduronate sulfatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501660015	Sulfo-iduronate sulfatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501661016	Deficiency of iduronate-2-sulphatase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
810825011	Mucopolysaccharidosis, MPS-II (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive	SNOMED CT core module
2971761011	Mucopolysaccharidosis type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module