734030009: 12q15q21.1 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 12\Deletion of part of long arm of chromosome 12\12q15q21.1 microdeletion syndrome
• \Anomaly of chromosome pair 12\Deletion of part of chromosome 12\Deletion of part of long arm of chromosome 12\12q15q21.1 microdeletion syndrome
• \Congenital disease\Congenital anomaly\12q15q21.1 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 12\Deletion of part of long arm of chromosome 12\12q15q21.1 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Deletion of part of chromosome 12\Deletion of part of long arm of chromosome 12\12q15q21.1 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\12q15q21.1 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3482018019	12q15q21.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3482019010	12q15q21.1 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3482020016	Deletion 12q15q21.1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3482021017	Monosomy 12q15q21.1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3482022012	A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12 with a highly variable phenotype. The disorder has typical characteristics of developmental delay, learning disability, intrauterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also 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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