718845002: X-linked intellectual disability with ataxia and apraxia syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)

\Finding related to coordination / incoordination (finding)\Finding of praxis\Apraxia\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)

\Musculoskeletal finding\Finding of praxis\Apraxia\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with ataxia and apraxia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3314058013 X-linked intellectual disability with ataxia and apraxia syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314059017 X-linked intellectual disability with ataxia and apraxia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401877019 A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401878012 A rare, X-linked syndromic intellectual disability disorder characterised by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	Apraxia	true	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	Cerebellar ataxia	false	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Finding site	Structure of musculoskeletal system (body structure)	true	Inferred relationship	Some	2
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314058013	X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314059017	X-linked intellectual disability with ataxia and apraxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401877019	A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401878012	A rare, X-linked syndromic intellectual disability disorder characterised by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core