764524005: Distal 22q11.2 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal 22q11.2 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal 22q11.2 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal 22q11.2 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal 22q11.2 microduplication syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal 22q11.2 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal 22q11.2 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal 22q11.2 microduplication syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal 22q11.2 microduplication syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3650203017	Distal trisomy 22q11.2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650204011	Distal 22q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3650205012	Distal 22q11.2 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start