718687003: Distal monosomy 10q 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 10\10q partial monosomy\Distal monosomy 10q syndrome
• \Anomaly of chromosome pair 10\Deletion of part of chromosome 10\10q partial monosomy\Distal monosomy 10q syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 10q syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 10\10q partial monosomy\Distal monosomy 10q syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Deletion of part of chromosome 10\10q partial monosomy\Distal monosomy 10q syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 10q syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313217015	Distal monosomy 10q	en	Synonym	Active	Case insensitive	SNOMED CT core
3313218013	Distal deletion 10q	en	Synonym	Active	Case insensitive	SNOMED CT core
4555201011	Distal monosomy 10q syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555202016	Distal monosomy 10q syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3313219017	A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis.	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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