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88469006: Zellweger 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
146682017 Zellweger syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
146683010 Cerebrohepatorenal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
831158015 Zellweger syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
1217059010 Hyperpipecolic acidaemia en Synonym Active Entire term case insensitive SNOMED CT core module
1218547015 Hyperpipecolic acidemia en Synonym Active Entire term case insensitive SNOMED CT core module
1235347013 Zellweger's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Zellweger syndrome Is a Multisystem disorder Y-Z false Inferred relationship Existential restriction modifier
Zellweger syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings true Inferred relationship Existential restriction modifier
Zellweger syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier
Zellweger syndrome Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Zellweger syndrome Is a Storage disease false Inferred relationship Existential restriction modifier
Zellweger syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Zellweger syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 1
Zellweger syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Zellweger syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Zellweger syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Zellweger syndrome Is a Peroxisome biogenesis disorder true Inferred relationship Existential restriction modifier
Zellweger syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Zellweger syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Zellweger syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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