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9839007: Anomaly of chromosome pair 20 (disorder)

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
17180013 Anomaly of chromosome pair 20 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
942111000172114 anomalie du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
942111000172114 anomalie du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

22 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 20 Finding site Chromosome pair 20 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 20 Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 20 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 20 Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 20 Is a Anomaly of chromosome pair true Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 20 Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 20 Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 20 Finding site Chromosome pair 20 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 20 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 20 Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 20 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
20q partial trisomy (disorder) Is a False Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Complete trisomy 20 syndrome (disorder) Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept)
Polymorphous corneal dystrophy Is a False Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary endothelial dystrophy Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
20p12.3 microdeletion syndrome Is a False Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 20 Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 20 (disorder) Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 20 syndrome (disorder) Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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