9839007: Anomaly of chromosome pair 20 (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 20

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 20

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

17180013 Anomaly of chromosome pair 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

843165019 Anomaly of chromosome pair 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3001271000005111 anomali i kromosompar 20 da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 20	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 20	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion.	Is a	False	Anomaly of chromosome pair 20	Inferred relationship	Some
20q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Complete trisomy 20 syndrome	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Polymorphous corneal dystrophy	Is a	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Congenital hereditary endothelial dystrophy (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.	Is a	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Deletion of part of chromosome 20 (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Partial trisomy of chromosome 20 (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some

This concept is not in any reference sets