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1479009: 20q partial trisomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4555937013 20q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555938015 20q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4390671000241114 trisomie partielle 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
20q partial trisomy (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
20q partial trisomy (disorder) Is a Anomaly of chromosome pair 20 false Inferred relationship Some
20q partial trisomy (disorder) Occurrence Congenital false Inferred relationship Some
20q partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
20q partial trisomy (disorder) Finding site Chromosome pair 20 false Inferred relationship Some 1
20q partial trisomy (disorder) Associated morphology Trisomy false Inferred relationship Some
20q partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Some
20q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
20q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some
20q partial trisomy (disorder) Finding site Chromosome pair 20 false Inferred relationship Some 1
20q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 1
20q partial trisomy (disorder) Finding site Chromosome pair 20 true Inferred relationship Some 1
20q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
20q partial trisomy (disorder) Is a Partial trisomy of chromosome 20 (disorder) true Inferred relationship Some
20q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 2
20q partial trisomy (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
20q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True 20q partial trisomy (disorder) Inferred relationship Some
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. Is a True 20q partial trisomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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