75610003: Mucopolysaccharidosis type I (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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis, MPS-I

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

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

\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I

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

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	Is a	Mucopolysaccharidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-I	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucopolysaccharidosis, MPS-I	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis, MPS-I-H/S	Is a	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-I-H	Is a	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-I-S	Is a	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
125578012	Mucopolysaccharidosis, MPS-I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
125580018	MPS I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
125581019	L-iduronidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
503066015	MPSI - Mucopolysaccharidosis type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
503067012	Mucopolysaccharidosis type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
503068019	Alpha-L-iduronidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2971922013	Mucopolysaccharidosis type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
125578012	Mucopolysaccharidosis, MPS-I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
125580018	MPS I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
125581019	L-iduronidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
503066015	MPSI - Mucopolysaccharidosis type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
503067012	Mucopolysaccharidosis type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
503068019	Alpha-L-iduronidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
816240013	Mucopolysaccharidosis, MPS-I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971922013	Mucopolysaccharidosis type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3387411001000114	Mukopolysaccharidose Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898281000172110	mucopolysaccharidose type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
957731000172118	déficit en alpha-L-iduronidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898281000172110	mucopolysaccharidose type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
957731000172118	déficit en alpha-L-iduronidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387411001000114	Mukopolysaccharidose Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module