1229883008: 19p13.3 microduplication syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)
• \Disease\Genetic disease\19p13.3 microduplication syndrome (disorder)
• \Disease\anomalie chromosomique\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\anomalie chromosomique\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\anomalie chromosomique\maladie chromosomique congénitale\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\anomalie chromosomique\maladie chromosomique congénitale\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\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\19p13.3 microduplication syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\19p13.3 microduplication syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\19p13.3 microduplication syndrome (disorder)
• \Disease\Congenital disease\maladie chromosomique congénitale\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\Congenital disease\maladie chromosomique congénitale\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\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\19p13.3 microduplication syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\19p13.3 microduplication syndrome (disorder)
• \Disease\trouble du développement\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:

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
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

Expanded Value Set

This concept is not in any reference sets

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