763272003: Distal trisomy 2q (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Distal trisomy 2q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Distal trisomy 2q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Distal trisomy 2q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Distal trisomy 2q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Distal trisomy 2q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Distal trisomy 2q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638346012	Distal trisomy 2q	en	Synonym	Active	Case insensitive	SNOMED CT core
3638347015	Distal trisomy 2q (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638348013	Distal duplication 2q	en	Synonym	Active	Case insensitive	SNOMED CT core
3638349017	A rare chromosomal anomaly resulting from the partial duplication of the long arm of chromosome 2. The disorder has characteristics of moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.	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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