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

\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

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

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

844391000052114 mukopolysackaridos typ I, MPS1 sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-I	Is a	Mucopolysaccharidosis	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I	Occurrence	Congenital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-I	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis, MPS-I-H/S	Is a	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I-H	Is a	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I-S	Is a	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Some
Enzyme replacement therapy in mucopolysaccharidosis, MPS-I (procedure)	Has focus	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Some	2

This concept is not in any reference sets