765487008: Ring chromosome 5 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 5 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 5\Ring chromosome 5 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 5 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 5 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Ring chromosome 5 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 5 syndrome

Status: current, Defined. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3658959017	Ring chromosome 5 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3658960010	Ring chromosome 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3658961014	Ring chromosome 5 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3658962019	A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (for example hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).	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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