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

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Partington syndrome

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

\Mental disorder\Developmental mental disorder\Intellectual disability\Partington syndrome

\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Partington syndrome
\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:

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

3677871000052110 Partingtons syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	mental retardation	false	Inferred relationship	Some
Partington syndrome	Is a	Intellectual disability	true	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets