699669001: Renpenning syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Renpenning syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Renpenning syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Renpenning syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Renpenning syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Renpenning syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Renpenning syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Renpenning syndrome (disorder)
\Disease\Developmental disorder\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

914711000172111 syndrome de Renpenning fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Renpenning syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Renpenning syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Renpenning syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Renpenning syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Renpenning syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Renpenning syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Renpenning syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Renpenning syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Renpenning syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Renpenning syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

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This concept is not in any reference sets