764524005: syndrome de microduplication 22q11.2 distale (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal 22q11.2 microduplication syndrome (disorder)
• \anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal 22q11.2 microduplication syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal 22q11.2 microduplication syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal 22q11.2 microduplication syndrome (disorder)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Distal 22q11.2 microduplication syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal 22q11.2 microduplication syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal 22q11.2 microduplication syndrome (disorder)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Distal 22q11.2 microduplication syndrome (disorder)

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
3650203017	Distal trisomy 22q11.2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650204011	Distal 22q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650205012	Distal 22q11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
766981000241112	syndrome de microduplication 22q11.2 distale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
930681000172110	dup(22)(q11.2) distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
973301000172119	syndrome de microduplication 22q11.2 distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3650047017	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslanting palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities and seizures have also been reported.	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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