65327002: Mucopolysaccharidosis type I-H (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\Mucopolysaccharidosis type I-H

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

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

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

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

108537017 Mucopolysaccharidosis, MPS-I-H en Synonym Active Only initial character case insensitive SNOMED CT core module

108538010 L-iduronidase deficiency, Hurler type en Synonym Active Entire term case sensitive SNOMED CT core module

108539019 Lipochondrodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

108540017 Gargoylism en Synonym Active Entire term case insensitive SNOMED CT core module

108541018 Hurler's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

108542013 Hurler-Pfaundler syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

108543015 Dysostosis multiplex syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

500079013 MPS 1-H - Mucopolysaccharidosis type I-H en Synonym Active Entire term case sensitive SNOMED CT core module

500080011 Mucopolysaccharidosis type I-H en Synonym Active Only initial character case insensitive SNOMED CT core module

500081010 Hurler disease MPS type 1H en Synonym Active Entire term case sensitive SNOMED CT core module

500082015 Mucopolysaccharidosis type I severe form en Synonym Active Only initial character case insensitive SNOMED CT core module

2971529014 Mucopolysaccharidosis type I-H (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-H	Is a	Mucopolysaccharidosis type I	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type I-H	Severity	Severe	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type I-H	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis type I-H	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets