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78989007: Trisomy (morphologic abnormality)

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
131068017 Trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819989012 Trisomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
131068017 Trisomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
131068017 Trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819989012 Trisomy (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
819989012 Trisomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trisomy (morphologic abnormality) Is a Karyotype morphology true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Partial trisomy Is a True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
13q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- meiotic nondisjunction Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 13, meiotic nondisjunction Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
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. Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
12p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
20q partial trisomy (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
14q partial distal trisomy syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 14 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
9q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
7q partial trisomy (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy X syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
12q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
16q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
11q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
10p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
17q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
4p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 18 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 20 syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
13p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 8 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
15q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 22 syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
10q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
5p partial trisomy Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 9 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
19q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 16 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
3p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
9p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
8p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 10 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
14q partial proximal trisomy syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
6p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
4q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
3q partial trisomy syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Down's syndrome NOS Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Edward's syndrome NOS Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Patau's syndrome NOS Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia cutis in Trisomy 13 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
13q partial trisomy syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Edward's syndrome NOS Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 13, meiotic nondisjunction Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - meiotic nondisjunction (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- meiotic nondisjunction Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 18 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Down's syndrome NOS Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Patau's syndrome NOS Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Fetus with complete trisomy 13 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Fetus with complete trisomy 18 syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Fetus with complete trisomy 21 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Periodontitis co-occurrent with Down syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 10p (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Complete trisomy 8 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Myeloid leukemia associated with Down syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Dementia co-occurrent and due to Down syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Trisomy 13 Is a True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 18 (morphologic abnormality) Is a True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 21 Is a True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 10 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 15 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 2 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 3 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 7 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 17 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 9 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 10 (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 4 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 22 Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 22 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 16 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 9 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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This concept is not in any reference sets

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