17760001: Anomaly of chromosome pair 13 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

30013010 Anomaly of chromosome pair 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

745100012 Anomaly of chromosome pair 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

931371000172112 anomalie du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 13	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 13	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 13	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 13	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Anomaly of chromosome pair 13	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 13	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 13	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 13	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Anomaly of chromosome pair 13	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 13	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 13	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1
Anomaly of chromosome pair 13	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
13q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 13	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Is a	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Complete trisomy 13 syndrome	Is a	False	Anomaly of chromosome pair 13	Inferred relationship	Some
13q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 13	Inferred relationship	Some
13p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 13	Inferred relationship	Some
Complete trisomy 13 syndrome	Is a	True	Anomaly of chromosome pair 13	Inferred relationship	Some
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.	Is a	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Deletion of part of chromosome 13 (disorder)	Is a	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Partial trisomy of chromosome 13	Is a	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	Is a	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Maternal uniparental disomy of chromosome 13 is a uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	Is a	True	Anomaly of chromosome pair 13	Inferred relationship	Some

Reference Sets