763061004: syndrome de microduplication 20q11.2 (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\20q11.2 microduplication syndrome
• \anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\20q11.2 microduplication syndrome
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 20\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\20q11.2 microduplication syndrome
• \anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\20q11.2 microduplication syndrome
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\20q11.2 microduplication syndrome
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 20\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\20q11.2 microduplication syndrome
• \Congenital disease\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\20q11.2 microduplication syndrome
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\20q11.2 microduplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3637731017	20q11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3637732012	20q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
765441000241119	syndrome de microduplication 20q11.2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
885551000172112	syndrome de microduplication 20q11.2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
964891000172113	dup(20)(q11.2)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3637733019	A rare chromosomal anomaly syndrome caused by partial duplication of the long arm of chromosome 20. The disorder has characteristics of psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated 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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