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70737009: mucopolysaccharidose type 2 (trouble)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Mucopolysaccharidosis, MPS-II

\Digestive system finding (finding)\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Mucopolysaccharidosis, MPS-II
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\Mucopolysaccharidosis, MPS-II

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Mucopolysaccharidosis, MPS-II
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Mucopolysaccharidosis, MPS-II
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\Mucopolysaccharidosis, MPS-II
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Mucopolysaccharidosis, MPS-II
\Disease\trouble métabolique\troubles métaboliques et génétiques affectant le foie\Mucopolysaccharidosis, MPS-II
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-II
\Disease\trouble métabolique\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, 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	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	est un(e) (attribut)	Mucopolysaccharidosis	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	est un(e) (attribut)	Congenital anomaly of trunk	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	est un(e) (attribut)	troubles métaboliques et génétiques affectant le foie	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	est un(e) (attribut)	Congenital anomaly of digestive system	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-II	localisation d'une constatation (attribut)	foie	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hunter's syndrome, mild form	est un(e) (attribut)	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Some
Hunter's syndrome, severe form	est un(e) (attribut)	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Some
dégénérescence cérébrale dans la maladie de Hunter	est un(e) (attribut)	False	Mucopolysaccharidosis, MPS-II	Inferred relationship	Some
dégénérescence cérébrale dans la maladie de Hunter	Due to	True	Mucopolysaccharidosis, MPS-II	Inferred relationship	Some	2

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

GB English

US English

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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
2971761011	Mucopolysaccharidosis type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
459701000241110	mucopolysaccharidose type 2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
988091000172113	mucopolysaccharidose type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
989711000172113	déficit en iduronate 2-sulfatase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)