770663003: Tetrasomy 11q24.1 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Tetrasomy 11q24.1
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Tetrasomy 11q24.1

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701911018	Microtriplication 11q24.1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701912013	Tetrasomy 11q24.1 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3701913015	Tetrasomy 11q24.1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701771019	An extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, with characteristics of intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophrys, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules).	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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