702412005: X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder)

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

\Genetic disease\maladie héréditaire\...

\Developmental hereditary disorder\Partington syndrome

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Partington syndrome

\trouble mental\troubles mentaux du développement\Intellectual disability\Partington syndrome

\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Partington syndrome
\trouble du développement\Developmental hereditary disorder\Partington syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

2995056015 Partington syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995061018 X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995617013 Partington-Mulley syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995685013 X-linked intellectual deficit-dystonia-dysarthria syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3009033010 Partington x-linked mental retardation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643144015 Partington X-linked intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partington syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Partington syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Partington syndrome	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Partington syndrome	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Partington syndrome	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Partington syndrome	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets