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88393000: Sanfilippo syndrome (disorder)


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
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


4 descendants. Search Descendants:

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

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