41572006: Mucopolysaccharidosis III-A (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis, MPS-III-A

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

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis, MPS-III-A

\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis, MPS-III-A

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis, MPS-III-A
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis, MPS-III-A
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis, MPS-III-A

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-III-A	Is a	Sanfilippo syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-III-A	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucopolysaccharidosis, MPS-III-A	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
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
2982779017	Mucopolysaccharidosis III-A (disorder)	en	Fully specified name	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	Only initial character case insensitive (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
493024011	N-sulphoglucosamine sulphohydrolase deficiency	en	Synonym (core metadata concept)	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	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	Only initial character 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	Only initial character 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
778375016	Mucopolysaccharidosis, MPS-III-A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2982779017	Mucopolysaccharidosis III-A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3415431001000116	Sanfilippo-Krankheit Typ A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6923691000241110	mucopolysaccharidose de type IIIA	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6923691000241110	mucopolysaccharidose de type IIIA	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3415431001000116	Sanfilippo-Krankheit Typ A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module