778043005: Ring chromosome 17 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 17 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 17\Ring chromosome 17 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 17 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 17 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Ring chromosome 17 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 17 syndrome

Status: current, Defined. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3737482017	Ring chromosome 17 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3737483010	Ring chromosome 17 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3737484016	Ring chromosome 17	en	Synonym	Active	Case insensitive	SNOMED CT core
3737485015	Ring 17	en	Synonym	Active	Case insensitive	SNOMED CT core
3737486019	A rare chromosomal anomaly syndrome resulting from partial deletion of chromosome 17. The disease has highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), cafe-au-lait spots, retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region.	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

Back to Start