1229883008: syndroom van 19p13.3-microduplicatie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\19p13.3 microduplication syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\19p13.3 microduplication syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\19p13.3 microduplication syndrome (disorder)

\Disease\Genetic disease\19p13.3 microduplication syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\19p13.3 microduplication syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)\19p13.3 microduplication syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)\19p13.3 microduplication syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)\19p13.3 microduplication syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)\19p13.3 microduplication syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)\19p13.3 microduplication syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)\19p13.3 microduplication syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\19p13.3 microduplication syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\19p13.3 microduplication syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
19p13.3 microduplication syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
19p13.3 microduplication syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
19p13.3 microduplication syndrome (disorder)	Is a	Partial trisomy of short arm of chromosome 19 (disorder)	true	Inferred relationship	Some
19p13.3 microduplication syndrome (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
19p13.3 microduplication syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
19p13.3 microduplication syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	4
19p13.3 microduplication syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
19p13.3 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
19p13.3 microduplication syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
19p13.3 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
19p13.3 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
19p13.3 microduplication syndrome (disorder)	Finding site	Chromosome pair 19	true	Inferred relationship	Some	2
19p13.3 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
19p13.3 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
19p13.3 microduplication syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	3
19p13.3 microduplication syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	3
19p13.3 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
19p13.3 microduplication syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
19p13.3 microduplication syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
19p13.3 microduplication syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
19p13.3 microduplication syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
19p13.3 microduplication syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	3

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 (core metadata concept)	SNOMED CT core
5065618015	19p13.3 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13603381000146119	19p13.3-microduplicatiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603391000146117	syndroom van 19p13.3-microduplicatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603401000146119	microduplicatie van chromosoom 19p13.3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603411000146117	syndroom van 19p13.3-microduplicatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5065616016	A rare genetic syndromic intellectual disability with characteristics of intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability and mild dysmorphic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core