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719599008: 19q13.11 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\19q13.11 microdeletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\19q13.11 microdeletion syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\19q13.11 microdeletion syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\19q13.11 microdeletion syndrome

\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19\Deletion of long arm of chromosome 19\19q13.11 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Deletion of part of chromosome 19\Deletion of long arm of chromosome 19\19q13.11 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19\Deletion of long arm of chromosome 19\19q13.11 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Deletion of part of chromosome 19\Deletion of long arm of chromosome 19\19q13.11 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\19q13.11 microdeletion syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3317092018 19q13.11 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3317093011 19q13.11 microdeletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3317094017 Monosomy 19q13.11 en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
19q13.11 microdeletion syndrome	Is a	Anomaly of chromosome pair 19	false	Inferred relationship	Existential restriction modifier
19q13.11 microdeletion syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
19q13.11 microdeletion syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Existential restriction modifier
19q13.11 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
19q13.11 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
19q13.11 microdeletion syndrome	Finding site	Chromosome pair 19	true	Inferred relationship	Existential restriction modifier	2
19q13.11 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	3
19q13.11 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
19q13.11 microdeletion syndrome	Finding site	Chromosome pair 19	false	Inferred relationship	Existential restriction modifier	3
19q13.11 microdeletion syndrome	Is a	Deletion of part of chromosome 19	false	Inferred relationship	Existential restriction modifier
19q13.11 microdeletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
19q13.11 microdeletion syndrome	Finding site	Long arm of chromosome	false	Inferred relationship	Existential restriction modifier	1
19q13.11 microdeletion syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Existential restriction modifier	1
19q13.11 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
19q13.11 microdeletion syndrome	Is a	Deletion of long arm of chromosome 19	true	Inferred relationship	Existential restriction modifier
19q13.11 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
19q13.11 microdeletion syndrome	Finding site	Chromosome pair 19	true	Inferred relationship	Existential restriction modifier	1
19q13.11 microdeletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
19q13.11 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
19q13.11 microdeletion syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
19q13.11 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

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
3317092018	19q13.11 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3317093011	19q13.11 microdeletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3317094017	Monosomy 19q13.11	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module