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 (disorder)\...

\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:

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

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

This concept is not in any reference sets