1229883008: 19p13.3 microduplication syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\19p13.3 microduplication syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\19p13.3 microduplication syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\19p13.3 microduplication syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\19p13.3 microduplication syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\19p13.3 microduplication syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\19p13.3 microduplication syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\19p13.3 microduplication syndrome

\Disease\Genetic disease\19p13.3 microduplication syndrome
\Disease\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19\19p13.3 microduplication syndrome
\Disease\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19\19p13.3 microduplication syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19\19p13.3 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 19\Partial trisomy of short arm of chromosome 19\19p13.3 microduplication syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\19p13.3 microduplication syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\19p13.3 microduplication syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\19p13.3 microduplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19\19p13.3 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 19\Partial trisomy of short arm of chromosome 19\19p13.3 microduplication syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\19p13.3 microduplication syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\19p13.3 microduplication syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\19p13.3 microduplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5065617013 19p13.3 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5065618015 19p13.3 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
19p13.3 microduplication syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
19p13.3 microduplication syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
19p13.3 microduplication syndrome	Is a	Partial trisomy of short arm of chromosome 19	true	Inferred relationship	Existential restriction modifier
19p13.3 microduplication syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
19p13.3 microduplication syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
19p13.3 microduplication syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	4
19p13.3 microduplication syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
19p13.3 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
19p13.3 microduplication syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
19p13.3 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
19p13.3 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
19p13.3 microduplication syndrome	Finding site	Chromosome pair 19	true	Inferred relationship	Existential restriction modifier	2
19p13.3 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
19p13.3 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
19p13.3 microduplication syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	3
19p13.3 microduplication syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	3
19p13.3 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
19p13.3 microduplication syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
19p13.3 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
19p13.3 microduplication syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
19p13.3 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

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
5065617013	19p13.3 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5065618015	19p13.3 microduplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module