70737009: Mucopolysaccharidosis type II (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II

\Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Mucopolysaccharidosis, MPS-II

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

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-II	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	Mucopolysaccharidosis	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Occurrence	Congenital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-II	Finding site	Liver structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hunter's syndrome, mild form	Is a	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Some
Hunter's syndrome, severe form	Is a	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Some
Cerebral degeneration in Hunter's disease	Is a	False	Mucopolysaccharidosis, MPS-II	Inferred relationship	Some
Cerebral degeneration in Hunter's disease	Due to	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Some	2

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

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