717633007: Distal monosomy 1q 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 1\1q partial monosomy\Distal monosomy 1q syndrome
• \Anomaly of chromosome pair 1\Deletion of part of chromosome 1\1q partial monosomy\Distal monosomy 1q syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 1q 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 1\1q partial monosomy\Distal monosomy 1q syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Deletion of part of chromosome 1\1q partial monosomy\Distal monosomy 1q syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 1q syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3309872013	Distal monosomy 1q	en	Synonym	Active	Case insensitive	SNOMED CT core
3309873015	Distal deletion 1q	en	Synonym	Active	Case insensitive	SNOMED CT core
3309874014	Monosomy 1qter	en	Synonym	Active	Case insensitive	SNOMED CT core
3309875010	Telomeric deletion 1q	en	Synonym	Active	Case insensitive	SNOMED CT core
4555958019	Distal monosomy 1q syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4555959010	Distal monosomy 1q syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3309876011	A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies.	en	Definition	Active	Case sensitive	SNOMED CT core
3309877019	A chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies.	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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