763528002: Distal monosomy 3p syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 3\Distal monosomy 3p
• \Anomaly of chromosome pair 3\Deletion of part of chromosome 3\Distal monosomy 3p
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 3\Distal monosomy 3p
• \Anomaly of chromosome pair 3\Deletion of part of chromosome 3\Distal monosomy 3p

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642742016	Distal monosomy 3p syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3642743014	Distal 3p deletion	en	Synonym	Active	Case insensitive	SNOMED CT core
3642744015	Distal monosomy 3p	en	Synonym	Active	Case insensitive	SNOMED CT core
3642745019	Distal monosomy 3p syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3642746018	3p syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3642747010	A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 3. The syndrome has a highly variable phenotype with typical characteristics of pre and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.	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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