47017007: Ring chromosome 1 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 1 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 1\Ring chromosome 1 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 1 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 1 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Ring chromosome 1 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 1 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
78364012	Ring chromosome 1 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
784429013	Ring chromosome 1 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4212335012	An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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