111310003: Ring chromosome 11 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 11 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 11\Ring chromosome 11 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 11 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 11 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Ring chromosome 11 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 11 syndrome

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
178542015	Ring chromosome 11 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
630197016	Ring chromosome 11 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4212351016	An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	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

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