26745009: Mucopolysaccharidosis type I-H/S (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

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-I-H/S	Is a	Mucopolysaccharidosis, MPS-I	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-I-H/S	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucopolysaccharidosis, MPS-I-H/S	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
44770015	Mucopolysaccharidosis, MPS-I-H/S	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
44771016	Hurler-Scheie syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
44772011	L-iduronidase deficiency, Hurler-Scheie type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483333016	Hurler-Scheie disease MPS type 1H/S	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2971450019	Mucopolysaccharidosis type I-H/S (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971919011	Mucopolysaccharidosis type I-H/S	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
44770015	Mucopolysaccharidosis, MPS-I-H/S	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
44771016	Hurler-Scheie syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
44772011	L-iduronidase deficiency, Hurler-Scheie type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
483333016	Hurler-Scheie disease MPS type 1H/S	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
757233017	Mucopolysaccharidosis, MPS-I-H/S (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971450019	Mucopolysaccharidosis type I-H/S (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971919011	Mucopolysaccharidosis type I-H/S	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446891001000118	Hurler-Scheie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446891001000118	Hurler-Scheie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module