FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.8.1 | FHIR Version n/a User: [n/a]

41572006: Mucopolysaccharidosis III-A (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\Sanfilippo syndrome\Mucopolysaccharidosis III-A

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-A
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-A

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

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

69343016 Mucopolysaccharidosis, MPS-III-A en Synonym Active Only initial character case insensitive SNOMED CT core module

69344010 Sanfilippo syndrome, type A en Synonym Active Entire term case sensitive SNOMED CT core module

69345011 Heparan sulfate sulfatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

69346012 N-sulfoglucosamine sulfohydrolase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

493024011 N-sulphoglucosamine sulphohydrolase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

493025012 Heparan-N-sulphatase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

493026013 Heparan sulphamidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

493027016 Heparan sulphate sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

493028014 Heparan sulfamidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

493029018 Heparan-N-sulfatase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

493030011 MPSIIIA - Mucopolysaccharidosis type IIIA en Synonym Active Entire term case sensitive SNOMED CT core module

493031010 MPS III-A - Mucopolysaccharidosis III-A en Synonym Active Entire term case sensitive SNOMED CT core module

493032015 Mucopolysaccharidosis type IIIA en Synonym Active Only initial character case insensitive SNOMED CT core module

493033013 Sanfilippo syndrome A en Synonym Active Entire term case sensitive SNOMED CT core module

493034019 Mucopolysaccharidosis III-A en Synonym Active Only initial character case insensitive SNOMED CT core module

2982779017 Mucopolysaccharidosis III-A (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 III-A	Is a	Sanfilippo syndrome	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis III-A	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mucopolysaccharidosis III-A	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
69343016	Mucopolysaccharidosis, MPS-III-A	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
69344010	Sanfilippo syndrome, type A	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
69345011	Heparan sulfate sulfatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
69346012	N-sulfoglucosamine sulfohydrolase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
493024011	N-sulphoglucosamine sulphohydrolase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
493025012	Heparan-N-sulphatase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
493026013	Heparan sulphamidase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
493027016	Heparan sulphate sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
493028014	Heparan sulfamidase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
493029018	Heparan-N-sulfatase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
493030011	MPSIIIA - Mucopolysaccharidosis type IIIA	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
493031010	MPS III-A - Mucopolysaccharidosis III-A	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
493032015	Mucopolysaccharidosis type IIIA	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
493033013	Sanfilippo syndrome A	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
493034019	Mucopolysaccharidosis III-A	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2982779017	Mucopolysaccharidosis III-A (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module