766052008: Distal trisomy 19q 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 19\19q partial trisomy syndrome\Distal trisomy 19q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\19q partial trisomy syndrome\Distal trisomy 19q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19\19q partial trisomy syndrome\Distal trisomy 19q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\19q partial trisomy syndrome\Distal trisomy 19q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19\19q partial trisomy syndrome\Distal trisomy 19q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\19q partial trisomy syndrome\Distal trisomy 19q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3660635010	Distal duplication 19q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660636011	Telomeric duplication 19q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660638012	Distal trisomy 19q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660647016	Distal trisomy 19q syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3660648014	Distal trisomy 19q syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3659798013	A rare chromosomal anomaly syndrome with characteristics of low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (for example clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.	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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