726723004: Ring chromosome 13 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 13 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 13\Ring chromosome 13 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 13 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 13 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Ring chromosome 13 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 13 syndrome

Status: current, Defined. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3452190018	Ring chromosome 13 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3452191019	Ring chromosome 13 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3452192014	Ring chromosome 13	en	Synonym	Active	Case insensitive	SNOMED CT core
3452193016	A chromosomal anomaly of chromosome 13 with characteristics of a widely variable phenotype ranging from mild to severe. Principle manifestations include intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. up-slanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies and genital abnormalities.	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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