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

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Partington syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Partington syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Partington syndrome
\Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Partington syndrome

\Disease\Genetic disease\Genetic intellectual disability\Partington syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Partington syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Partington syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\Partington syndrome
\Disease\Developmental disorder\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:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
7568111000241117	syndrome de Partington	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7568121000241112	syndrome de déficit intellectuel, dystonie, dysarthrie, lié à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396021001000112	Partington-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module