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25610001: Chromosome pair 20 (cell structure)

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
42933017 Chromosome pair 20 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
42933017 Chromosome pair 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755947010 Chromosome pair 20 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1187274012 Chromosome pair 20 (cell structure) en Fully specified name Active Only initial character 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 20 Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 20 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
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. Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
20q partial trisomy (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 20 syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 20 Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Polymorphous corneal dystrophy Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hereditary endothelial dystrophy Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
dystrophie endothéliale congénitale héréditaire type I Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hereditary endothelial dystrophy type 2 (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
20q partial trisomy (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 20 syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Polymorphous corneal dystrophy Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Anomaly of chromosome pair 20 Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
20q partial trisomy (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hereditary endothelial dystrophy Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 20 Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Polymorphous corneal dystrophy Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 20 syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
dystrophie endothéliale congénitale héréditaire type I Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hereditary endothelial dystrophy type 2 (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
20p12.3 microdeletion syndrome Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.3 microdeletion syndrome Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 3
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 20 Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 20 (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of short arm of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 20 (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Distal trisomy 20q syndrome Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 20 syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 20 syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
20p13 microdeletion syndrome Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
20p13 microdeletion syndrome Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Monosomie 14q, distale Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Monosomie 14q, distale Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.2 deletion syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.2 deletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
20p12.3 microdeletion syndrome Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
20q11.2 microdeletion syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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