787411009: Monosomy 22 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Complete monosomy of autosome\Monosomy 22 syndrome
• \Anomaly of chromosome pair 22\Monosomy 22 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 22 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Complete monosomy of autosome\Monosomy 22 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Monosomy 22 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 22 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3775333010	Deletion 22	en	Synonym	Active	Case insensitive	SNOMED CT core
3775335015	Monosomy 22	en	Synonym	Active	Case insensitive	SNOMED CT core
4555265016	Monosomy 22 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555266015	Monosomy 22 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3775336019	A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.	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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