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773670004: Distal Xq28 microduplication syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Distal Xq28 microduplication syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Distal Xq28 microduplication syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Distal Xq28 microduplication syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Distal Xq28 microduplication syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Distal Xq28 microduplication syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Distal Xq28 microduplication syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xq28 trisomy\Distal Xq28 microduplication syndrome
\Disease\Congenital disease\Congenital malformation\Distal Xq28 microduplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xq28 trisomy\Distal Xq28 microduplication syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Distal Xq28 microduplication syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Distal Xq28 microduplication syndrome
\Disease\Developmental disorder\Congenital malformation\Distal Xq28 microduplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3725602017 Distal Xq28 microduplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3725603010 Distal Xq28 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3725604016 Distal trisomy Xq28 en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal Xq28 microduplication syndrome	Is a	Anomaly of chromosome X	false	Inferred relationship	Existential restriction modifier
Distal Xq28 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Distal Xq28 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Distal Xq28 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal Xq28 microduplication syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Distal Xq28 microduplication syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Existential restriction modifier	1
Distal Xq28 microduplication syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Distal Xq28 microduplication syndrome	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier
Distal Xq28 microduplication syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Distal Xq28 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Distal Xq28 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal Xq28 microduplication syndrome	Is a	Chromosome Xq28 trisomy	true	Inferred relationship	Existential restriction modifier
Distal Xq28 microduplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	2
Distal Xq28 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
Distal Xq28 microduplication syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Distal Xq28 microduplication syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Distal Xq28 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Distal Xq28 microduplication syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Distal Xq28 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3725602017	Distal Xq28 microduplication syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3725603010	Distal Xq28 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3725604016	Distal trisomy Xq28	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module