270521004: Trisomy and partial trisomy of autosome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome

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

2241851000005111 Trisomi og partiel trisomi af autosom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trisomy and partial trisomy of autosome	Is a	Congenital disorder due to abnormality of chromosome number OR structure (disorder)	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	kongenit anomali	false	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Associated morphology	kongenit anomali	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 (disorder)	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
Ekstra markørkromosom	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
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	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
Komplet trisomi 14-syndrom	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
partiel trisomi 16q-syndrom	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 (disorder)	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
partiel trisomi 15q-syndrom	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
partiel trisomi 8p-syndrom	Is a	False	Trisomy and partial trisomy of autosome	Inferred relationship	Some
partiel trisomi 1q-syndrom	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
partiel trisomi 16p-syndrom	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	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
total trisomi, mitotisk non-disjunktion	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
andre trisomi C-syndromer	Is a	False	Trisomy and partial trisomy of autosome	Inferred relationship	Some
andet specificeret helt kromosom-trisomi-syndrom	Is a	False	Trisomy and partial trisomy of autosome	Inferred relationship	Some
helt kromosom-trisomi-syndrom, ikke nærmere specificeret	Is a	False	Trisomy and partial trisomy of autosome	Inferred relationship	Some
trisomier af autosomer, ikke klassificeret andetsteds	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
Chromosome Xq28 trisomy	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

Page 1 of 2 End

This concept is not in any reference sets

Back to Start

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
2241851000005111	Trisomi og partiel trisomi af autosom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)