733473000: 16p13.3 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\16p13.3 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\16p13.3 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\16p13.3 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\16p13.3 microduplication syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\16p13.3 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\16p13.3 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\16p13.3 microduplication syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\16p13.3 microduplication syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499509012	Distal trisomy 16p	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499510019	Distal duplication 16p	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499511015	16p13.3 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499512010	16p13.3 microduplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3500013012	A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which includes: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (up slanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears).	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

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