53392002: Anomaly of chromosome pair 16 (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 16

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16

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

88771011 Anomaly of chromosome pair 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

791506016 Anomaly of chromosome pair 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

994331000172118 anomalie du chromosome 16 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 16	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 16	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Finding site	Chromosome pair 16	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
16q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
Complete trisomy 16 syndrome	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
16p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
Deletion of part of chromosome 16 (disorder)	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Partial trisomy of chromosome 16	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecanthus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Mosaic trisomy 16 syndrome	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Frontotemporal dementia due to FUS mutation	Due to	True	Anomaly of chromosome pair 16	Inferred relationship	Some	3

Reference Sets