764696007: Distal 17p13.3 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 17\Deletion of part of short arm of chromosome 17\Distal 17p13.3 microdeletion syndrome
• \Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of short arm of chromosome 17\Distal 17p13.3 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 17\Deletion of part of short arm of chromosome 17\Distal 17p13.3 microdeletion syndrome
• \Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of short arm of chromosome 17\Distal 17p13.3 microdeletion syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654875010	Distal 17p13.3 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3654876011	Distal monosomy 17p13.3	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3654877019	Distal 17p13.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3654653011	A rare partial monosomy of the short arm of chromosome 17 with a variable phenotype. The disease has characteristics of prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphism including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia but not lissencephaly.	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

Back to Start