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719600006: 1p21.3 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\1p21.3 microdeletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\1p21.3 microdeletion syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\1p21.3 microdeletion syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\1p21.3 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 1\1p partial monosomy\1p21.3 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Deletion of part of chromosome 1\1p partial monosomy\1p21.3 microdeletion syndrome
\Disease\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\1p21.3 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\1p21.3 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 1\1p partial monosomy\1p21.3 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Deletion of part of chromosome 1\1p partial monosomy\1p21.3 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\1p21.3 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\1p21.3 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\1p21.3 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

3317088013 1p21.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3317090014 1p21.3 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3317106013 Monosomy 1p21.3 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
1p21.3 microdeletion syndrome	Is a	1p partial monosomy	true	Inferred relationship	Existential restriction modifier
1p21.3 microdeletion syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
1p21.3 microdeletion syndrome	Is a	Autistic disorder	true	Inferred relationship	Existential restriction modifier
1p21.3 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
1p21.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
1p21.3 microdeletion syndrome	Finding site	Chromosome pair 1	true	Inferred relationship	Existential restriction modifier	2
1p21.3 microdeletion syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Existential restriction modifier	3
1p21.3 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
1p21.3 microdeletion syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Existential restriction modifier	3
1p21.3 microdeletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
1p21.3 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
1p21.3 microdeletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
1p21.3 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
1p21.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
1p21.3 microdeletion syndrome	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier
1p21.3 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
1p21.3 microdeletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
1p21.3 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
1p21.3 microdeletion syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
1p21.3 microdeletion 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
3317088013	1p21.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3317090014	1p21.3 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3317106013	Monosomy 1p21.3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module