724070005: Paternal 20q13.2q13.3 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 20\Deletion of part of long arm of chromosome 20\Paternal 20q13.2q13.3 microdeletion syndrome
• \Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of long arm of chromosome 20\Paternal 20q13.2q13.3 microdeletion syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Paternal 20q13.2q13.3 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 20\Deletion of part of long arm of chromosome 20\Paternal 20q13.2q13.3 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\Paternal 20q13.2q13.3 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Paternal 20q13.2q13.3 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3429808015	Paternal 20q13.2q13.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3429809011	Paternal 20q13.2q13.3 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3429810018	Paternal monosomy 20q13.2q13.3	en	Synonym	Active	Case insensitive	SNOMED CT core
3429811019	Syndrome with characteristics of severe pre and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. It has been reported in 2 unrelated patients. Facial dysmorphism includes high forehead, broad nasal bridge, thin upper lip, small chin and malformed ears. In addition, the patients presented with skin, iris and hair hypopigmentation and abnormal adipose tissue distribution. The syndrome is caused by an interstitial deletion of paternal origin at 20q13.2q13.3. In the 2 cases, the deletion was approximately 4.5Mb in size and encompassed the GNAS imprinted locus; the loss of the paternally expressed GNAS gene might account for the severe pre and post-natal retardation and intractable feeding difficulties observed in the patients.	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

Description inactivation indicator reference set

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