770401007: 10q22.3q23.3 microdeletion 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\10q22.3q23.3 microdeletion syndrome
• \Anomaly of chromosome pair 10\Deletion of part of chromosome 10\10q partial monosomy\10q22.3q23.3 microdeletion 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\10q22.3q23.3 microdeletion syndrome
• \Anomaly of chromosome pair 10\Deletion of part of chromosome 10\10q partial monosomy\10q22.3q23.3 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3700688012	10q22.3q23.3 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3700689016	Deletion 10q22.3q23.3	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3700690013	10q22.3q23.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3700691012	Monosomy 10q22.3q23.3	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3700696019	A rare partial autosomal monosomy with characteristics of mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, attention deficit hyperactivity disorder, autism. Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity and clubfoot, feeding difficulties, failure to thrive.	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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