726723004: Ring chromosome 13 syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 13 syndrome (disorder)
• \Congenital chromosomal disease\Ring chromosome\Ring chromosome 13 syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Ring chromosome 13 syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 13 syndrome (disorder)
• \Anomaly of chromosome pair\Anomaly of chromosome pair 13\Ring chromosome 13 syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 13 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452191019	Ring chromosome 13 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452192014	Ring chromosome 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403597014	A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403598016	A rare chromosomal anomaly of chromosome 13 characterised by a widely variable phenotype (ranging from mild to severe) principally characterised by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioural problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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