699669001: syndrome de Renpenning (trouble)

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

\Genetic disease\maladie héréditaire\...

\Developmental hereditary disorder\Renpenning syndrome (disorder)

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Renpenning syndrome (disorder)

\trouble mental\troubles mentaux du développement\Intellectual disability\Renpenning syndrome (disorder)

\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Renpenning syndrome (disorder)
\trouble du développement\Developmental hereditary disorder\Renpenning syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2985438013 Renpenning syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2985573013 Renpenning syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2985599018 Porteous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2985812018 Sutherland-Haan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2985846017 X-linked intellectual deficit due to PQBP1 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2985874010 Hamel cerebropalatocardiac syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2987369010 Golabi-Ito-Hall syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

731811000241114 syndrome de Renpenning (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

914711000172111 syndrome de Renpenning fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

928261000172119 déficience intellectuelle liée à l'X par mutation de PQBP1 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
Renpenning syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Renpenning syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Renpenning syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Renpenning syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Renpenning syndrome (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Renpenning syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets