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88469006: Zellweger syndrome (disorder)


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
146682017 Zellweger syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
146683010 Cerebrohepatorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
831158015 Zellweger syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1217059010 Hyperpipecolic acidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1218547015 Hyperpipecolic acidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1235347013 Zellweger's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
146682017 Zellweger syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
146683010 Cerebrohepatorenal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
146683010 Cerebrohepatorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
831158015 Zellweger syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
831158015 Zellweger syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1217059010 Hyperpipecolic acidaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1217059010 Hyperpipecolic acidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1218547015 Hyperpipecolic acidemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1218547015 Hyperpipecolic acidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1235347013 Zellweger's syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1235347013 Zellweger's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448661001000114 Zellweger-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
901381000172118 syndrome cérébro-hépato-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918061000172117 syndrome de Zellweger fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
901381000172118 syndrome cérébro-hépato-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918061000172117 syndrome de Zellweger fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448661001000114 Zellweger-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (core metadata concept)
Zellweger syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings true Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Is a Storage disease false Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Zellweger syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zellweger syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Zellweger syndrome Is a Peroxisome biogenesis disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zellweger syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zellweger syndrome Is a Developmental hereditary disorder true 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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