88393000: mucopolysacharidose type 3 (aandoening)

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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome

\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome

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

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

146555015 Sanfilippo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

201403015 Mucopolysaccharidosis, MPS-III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

831067017 Sanfilippo syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1235341014 Sanfilippo disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1235342019 Mucopolysaccharidosis type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

360621000146118 mucopolysacharidose type 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

360631000146116 mucopolysacharidose type 3 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12321211000146110 syndroom van Sanfilippo nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13083171000146113 Aangeboren stofwisselingsaandoening, waarbij eiwitachtige stoffen in de weefsels worden opgehoopt, met als gevolg een afname van verstandelijke vermogens en dementie. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sanfilippo syndrome	Is a	Mucopolysaccharidosis	true	Inferred relationship	Some
Sanfilippo syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Sanfilippo syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Sanfilippo syndrome	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis, MPS-III-D	Is a	True	Sanfilippo syndrome	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-A	Is a	True	Sanfilippo syndrome	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-B	Is a	True	Sanfilippo syndrome	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-C	Is a	True	Sanfilippo syndrome	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)