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270521004: Trisomy and partial trisomy of autosome (disorder)

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
405160017 Trisomy and partial trisomy of autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
663157011 Trisomy and partial trisomy of autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5110721000241115 trisomie et trisomie partielle des autosomes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

231 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trisomy and partial trisomy of autosome Is a Congenital chromosomal disease true Inferred relationship Some
Trisomy and partial trisomy of autosome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Trisomy and partial trisomy of autosome Occurrence Congenital false Inferred relationship Some
Trisomy and partial trisomy of autosome Finding site Chromosome structure false Inferred relationship Some 1
Trisomy and partial trisomy of autosome Associated morphology anomalie congénitale false Inferred relationship Some 1
Trisomy and partial trisomy of autosome Associated morphology anomalie congénitale false Inferred relationship Some
Trisomy and partial trisomy of autosome Finding site Chromosome structure false Inferred relationship Some 1
Trisomy and partial trisomy of autosome Occurrence Congenital true Inferred relationship Some 1
Trisomy and partial trisomy of autosome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Trisomy and partial trisomy of autosome Finding site Chromosome structure true Inferred relationship Some 1
Trisomy and partial trisomy of autosome Is a Autosomal duplication (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
13q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Major partial trisomy Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Minor partial trisomy Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Extra marker chromosomes Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
8q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
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. Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Unbalanced translocation and insertion Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy 21 in Down's syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy 18 in Edward's syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy 13 in Patau's syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy meiotic nondisjunction (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy - mitotic nondisjunction mosaicism Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
12p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
20q partial trisomy (disorder) Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 13 syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 14 syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
9q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
11p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
7q partial trisomy (disorder) Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
12q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 21 syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
18p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
16q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
11q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
10p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
17q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
4p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
22q partial trisomy (disorder) Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 18 syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
17p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 20 syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
13p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
2p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
2q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
18q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
15q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
10q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
5p partial trisomy Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
14q partial trisomy (disorder) Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
19q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
6q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 16 syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
3p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
9p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
8p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
1q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
7p partial trisomy (disorder) Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
6p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
16p partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
4q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
3q partial trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 6 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 7 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 8 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 9 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 10 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 11 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 12 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 22 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy, meiotic nondisjunction Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy, mosaicism Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy syndromes Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Other trisomy C syndromes Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Other specified whole chromosome trisomy syndrome Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy syndrome NOS Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomies of autosomes NEC Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
[X]Other specified trisomies and partial trisomies of autosomes Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 13 syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 21- mitotic nondisjunction mosaicism Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance. Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 8 syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Xq28-Duplikationssyndrom, proximales Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 1 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 2 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 3 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 4 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 5 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 6 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 7 (disorder) Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 8 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 9 (disorder) Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 10 (disorder) Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 11 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 12 Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 13 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 14 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 15 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 16 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 17 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 18 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 19 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 20 (disorder) Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 21 Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 22 Is a False Trisomy and partial trisomy of autosome Inferred relationship Some
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some

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