770793002: 5p13 microduplication syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\5p13 microduplication syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\5p13 microduplication syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\5p13 microduplication syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\5p13 microduplication syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\5p13 microduplication syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\5p13 microduplication syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\5p13 microduplication syndrome

\Disease\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of short arm of chromosome 5\5p13 microduplication syndrome
\Disease\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of short arm of chromosome 5\5p13 microduplication syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\Partial trisomy of short arm of chromosome 5\5p13 microduplication syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of short arm of chromosome 5\5p13 microduplication syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\5p13 microduplication syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\5p13 microduplication syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\5p13 microduplication syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\5p13 microduplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\Partial trisomy of short arm of chromosome 5\5p13 microduplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of short arm of chromosome 5\5p13 microduplication syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\5p13 microduplication syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\5p13 microduplication syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\5p13 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

3702820014 5p13 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3702821013 Trisomy 5p13 en Synonym Active Entire term case insensitive SNOMED CT core module

3702822018 5p13 microduplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
5p13 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
5p13 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
5p13 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
5p13 microduplication syndrome	Is a	Partial trisomy of chromosome 5	false	Inferred relationship	Existential restriction modifier
5p13 microduplication syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
5p13 microduplication syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
5p13 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
5p13 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
5p13 microduplication syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
5p13 microduplication syndrome	Finding site	Chromosome pair 5	true	Inferred relationship	Existential restriction modifier	2
5p13 microduplication syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
5p13 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
5p13 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
5p13 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
5p13 microduplication syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
5p13 microduplication syndrome	Is a	Partial trisomy of short arm of chromosome 5	true	Inferred relationship	Existential restriction modifier
5p13 microduplication syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
5p13 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
5p13 microduplication syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
5p13 microduplication 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
3702820014	5p13 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3702821013	Trisomy 5p13	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3702822018	5p13 microduplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module