238062008: Infantile Refsum's disease (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Infantile Refsum's disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\Infantile Refsum's disease

\trouble métabolique\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Infantile Refsum's disease

\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Infantile Refsum's disease

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

1015991000172113 IRD - infantile Refsum disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

2842276011 Infantile Refsum disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356844018 Infantile Refsum's disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

549661000241111 maladie de Refsum infantile (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

626893015 Infantile Refsum's disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

990751000172118 maladie de Refsum infantile 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
Infantile Refsum's disease	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Infantile Refsum's disease	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Infantile Refsum's disease	est un(e) (attribut)	General loss of peroxisomal function	false	Inferred relationship	Some
Infantile Refsum's disease	est un(e) (attribut)	Peroxisome biogenesis disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets