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73146005: ernstige vorm van mucopolysacharidose type II (aandoening)

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\Hunter's syndrome, severe form

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

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

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
Hunter's syndrome, severe form	Is a	Mucopolysaccharidosis, MPS-II	true	Inferred relationship	Some
Hunter's syndrome, severe form	Severity	Severe	false	Inferred relationship	Some
Hunter's syndrome, severe form	Finding site	Liver structure	true	Inferred relationship	Some	2
Hunter's syndrome, severe form	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
121485018	Hunter's syndrome, severe form	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502364017	Mucopolysaccharidosis type II severe form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
813502019	Hunter's syndrome, severe form (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2842547012	Hunter syndrome, severe form	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6136191000146111	ernstige vorm van mucopolysacharidose type II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6136201000146113	ernstige vorm van MPS II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6136231000146115	ernstige vorm van syndroom van Hunter	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6136241000146111	ernstige vorm van mucopolysacharidose type II (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6675371000146116	ernstige vorm van mucopolysacharidose type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6675381000146119	ernstige vorm van iduronaat 2-sulfatasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)