41572006: Mucopolysaccharidosis III-A (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-A (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome\Mucopolysaccharidosis III-A (disorder)

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-A (disorder)
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-A (disorder)

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-A (disorder)

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

2982779017 Mucopolysaccharidosis III-A (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

493024011 N-sulphoglucosamine sulphohydrolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

493025012 Heparan-N-sulphatase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

493026013 Heparan sulphamidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493027016 Heparan sulphate sulphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493028014 Heparan sulfamidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493029018 Heparan-N-sulfatase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

493030011 MPSIIIA - Mucopolysaccharidosis type IIIA en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

493031010 MPS III-A - Mucopolysaccharidosis III-A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

493032015 Mucopolysaccharidosis type IIIA en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

493033013 Sanfilippo syndrome A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

493034019 Mucopolysaccharidosis III-A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

69343016 Mucopolysaccharidosis, MPS-III-A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

69344010 Sanfilippo syndrome, type A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

69345011 Heparan sulfate sulfatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

69346012 N-sulfoglucosamine sulfohydrolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis III-A (disorder)	est un(e) (attribut)	Sanfilippo syndrome	true	Inferred relationship	Some
Mucopolysaccharidosis III-A (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucopolysaccharidosis III-A (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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)