23686004: Ring chromosome 20 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 20 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 20\Ring chromosome 20 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 20 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 20 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Ring chromosome 20 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 20 syndrome

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
39772011	Ring chromosome 20 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
753235011	Ring chromosome 20 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4212346010	Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.	en	Definition	Active	Case sensitive	SNOMED CT core
4212347018	Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.	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