75610003: mucopolysaccharidose type 1 (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I

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

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I

\Congenital disease\Inborn error of metabolism\Storage disease\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

2971922013 Mucopolysaccharidosis type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

465171000241112 mucopolysaccharidose type 1 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

898281000172110 mucopolysaccharidose type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

957731000172118 déficit en alpha-L-iduronidase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-I	est un(e) (attribut)	Mucopolysaccharidosis	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-I	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis type I-H/S (disorder)	est un(e) (attribut)	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I-H	est un(e) (attribut)	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Some
Mucopolysaccharidosis type I-S (disorder)	est un(e) (attribut)	True	Mucopolysaccharidosis, MPS-I	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)