75610003: Mucopolysaccharidosis type I (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type I

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis type I

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type I
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type I

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type I

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

125578012 Mucopolysaccharidosis, MPS-I en Synonym Active Only initial character case insensitive SNOMED CT core module
125579016 L-iduronidase deficiency, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
125580018 MPS I en Synonym Active Entire term case sensitive SNOMED CT core module
125581019 L-iduronidase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
503066015 MPSI - Mucopolysaccharidosis type I en Synonym Active Entire term case sensitive SNOMED CT core module
503067012 Mucopolysaccharidosis type I en Synonym Active Only initial character case insensitive SNOMED CT core module
503068019 Alpha-L-iduronidase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
816240013 Mucopolysaccharidosis, MPS-I (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2971922013 Mucopolysaccharidosis type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis type I	Is a	Mucopolysaccharidosis	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type I	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mucopolysaccharidosis type I	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis type I-H/S	Is a	True	Mucopolysaccharidosis type I	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type I-H	Is a	True	Mucopolysaccharidosis type I	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type I-S	Is a	True	Mucopolysaccharidosis type I	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets