88469006: Zellweger syndrome (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Developmental hereditary disorder\Zellweger syndrome

\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Zellweger syndrome

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\Zellweger syndrome

\trouble métabolique\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Zellweger syndrome

\trouble du développement\Developmental hereditary disorder\Zellweger syndrome
\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Zellweger 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

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 insensitive (core metadata concept) SNOMED CT core

479571000241113 syndrome de Zellweger (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

831158015 Zellweger syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

901381000172118 syndrome cérébro-hépato-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

918061000172117 syndrome de Zellweger fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Zellweger syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Zellweger syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Zellweger syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Zellweger syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Zellweger syndrome	est un(e) (attribut)	Multisystem disorder Y-Z (navigational concept)	false	Inferred relationship	Some
Zellweger syndrome	est un(e) (attribut)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Zellweger syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Zellweger syndrome	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
Zellweger syndrome	est un(e) (attribut)	Storage disease	false	Inferred relationship	Some
Zellweger syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Zellweger syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Zellweger syndrome	est un(e) (attribut)	Peroxisome biogenesis disorder	true	Inferred relationship	Some
Zellweger syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Zellweger syndrome	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)