733520002: 20q13.33 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 20\Deletion of part of long arm of chromosome 20\20q13.33 microdeletion syndrome
• \Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of long arm of chromosome 20\20q13.33 microdeletion syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\20q13.33 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 20\Deletion of part of long arm of chromosome 20\20q13.33 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of long arm of chromosome 20\20q13.33 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\20q13.33 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499598013	20q13.33 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3499599017	Monosomy 20q13.33	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499600019	20q13.33 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3500026011	A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20. The disorder has a highly variable phenotype with typical characteristics of hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently 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

Strength reference set

Description inactivation indicator reference set

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