782676009: Distal trisomy 18q (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755114012	Distal duplication 18q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755115013	Telomeric duplication 18q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755116014	Distal trisomy 18q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755117017	Distal trisomy 18q (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3755118010	A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.	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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