25610001: Chromosome pair 20 (cell structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 20

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

42933017 Chromosome pair 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1187274012 Chromosome pair 20 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome pair 20	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 20	partie de	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
20q partial trisomy (disorder)	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
Complete trisomy 20 syndrome	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
Polymorphous corneal dystrophy	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
Congenital hereditary endothelial dystrophy (disorder)	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
dystrophie endothéliale congénitale héréditaire type I	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
Congenital hereditary endothelial dystrophy type 2 (disorder)	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
20q partial trisomy (disorder)	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
Complete trisomy 20 syndrome	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
Polymorphous corneal dystrophy	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
Anomaly of chromosome pair 20	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
20q partial trisomy (disorder)	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
Congenital hereditary endothelial dystrophy (disorder)	Finding site	True	Chromosome pair 20	Inferred relationship	Some	2
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
Polymorphous corneal dystrophy	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
Complete trisomy 20 syndrome	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
dystrophie endothéliale congénitale héréditaire type I	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
Congenital hereditary endothelial dystrophy type 2 (disorder)	Finding site	True	Chromosome pair 20	Inferred relationship	Some	2
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.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
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.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	3
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	3
Deletion of part of chromosome 20 (disorder)	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
Deletion of part of long arm of chromosome 20 (disorder)	Finding site	True	Chromosome pair 20	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 20 (disorder)	Finding site	False	Chromosome pair 20	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 20 (disorder)	Finding site	True	Chromosome pair 20	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 20 (disorder)	Finding site	False	Chromosome pair 20	Inferred relationship	Some	3
Partial trisomy of chromosome 20 (disorder)	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	3
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (including large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
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.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	2
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.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
Monosomie 14q, distale	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
Monosomie 14q, distale	Finding site	False	Chromosome pair 20	Inferred relationship	Some	1
20p12.2 deletion syndrome (disorder)	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
20p12.2 deletion syndrome (disorder)	Finding site	False	Chromosome pair 20	Inferred relationship	Some	2
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.	Finding site	True	Chromosome pair 20	Inferred relationship	Some	1

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
42933017	Chromosome pair 20	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1187274012	Chromosome pair 20 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core