88393000: Sanfilippo syndrome (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

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

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

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

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

146555015 Sanfilippo syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
146556019 Sanfilippo syndrome, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
201403015 Mucopolysaccharidosis, MPS-III en Synonym Active Only initial character case insensitive SNOMED CT core module
831067017 Sanfilippo syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
1235341014 Sanfilippo disease en Synonym Active Entire term case sensitive SNOMED CT core module
1235342019 Mucopolysaccharidosis type III en Synonym Active Only initial character case insensitive SNOMED CT core module
223471000000113 Sanfilippo's syndrome en Synonym Inactive Entire term case sensitive SNOMED CT United Kingdom Edition module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis III-D	Is a	True	Sanfilippo syndrome	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis III-A	Is a	True	Sanfilippo syndrome	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis III-B	Is a	True	Sanfilippo syndrome	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis III-C	Is a	True	Sanfilippo syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets