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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

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trisomy Is a Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Partial trisomy Is a True Trisomy Inferred relationship Some
13q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some 1
Trisomy 21- meiotic nondisjunction Associated morphology True Trisomy Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Trisomy Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Associated morphology False Trisomy Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Trisomy Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Associated morphology True Trisomy Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology True Trisomy Inferred relationship Some 1
8q partial trisomy syndrome Associated morphology False Trisomy 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. Associated morphology False Trisomy Inferred relationship Some
12p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
20q partial trisomy (disorder) Associated morphology False Trisomy Inferred relationship Some
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 13 syndrome Associated morphology False Trisomy Inferred relationship Some 1
Complete trisomy 14 syndrome Associated morphology False Trisomy Inferred relationship Some 2
9q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal Associated morphology False Trisomy Inferred relationship Some 2
11p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
7q partial trisomy (disorder) Associated morphology False Trisomy Inferred relationship Some
Trisomy X syndrome Associated morphology True Trisomy Inferred relationship Some 1
12q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 21 syndrome Associated morphology True Trisomy Inferred relationship Some 1
18p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
16q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
11q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
10p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
17q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
4p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
22q partial trisomy (disorder) Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 18 syndrome Associated morphology True Trisomy Inferred relationship Some 1
17p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 20 syndrome Associated morphology False Trisomy Inferred relationship Some 2
13p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
2p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
2q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
18q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 8 syndrome Associated morphology False Trisomy Inferred relationship Some
15q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 22 syndrome Associated morphology False Trisomy Inferred relationship Some 2
10q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
5p partial trisomy Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 9 syndrome Associated morphology False Trisomy Inferred relationship Some
14q partial trisomy (disorder) Associated morphology False Trisomy Inferred relationship Some
19q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
6q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 16 syndrome Associated morphology False Trisomy Inferred relationship Some 2
3p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
9p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
8p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 10 syndrome Associated morphology False Trisomy Inferred relationship Some 2
1q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
7p partial trisomy (disorder) Associated morphology False Trisomy Inferred relationship Some
14q partial proximal trisomy syndrome (disorder) Associated morphology False Trisomy Inferred relationship Some
6p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
16p partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
4q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
3q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Down's syndrome NOS Associated morphology False Trisomy Inferred relationship Some 1
Edward's syndrome NOS Associated morphology False Trisomy Inferred relationship Some 1
Patau's syndrome NOS Associated morphology False Trisomy Inferred relationship Some 2
Aplasia cutis in Trisomy 13 syndrome (disorder) Associated morphology False Trisomy Inferred relationship Some 1
Complete trisomy 13 syndrome Associated morphology True Trisomy Inferred relationship Some 2
13q partial trisomy syndrome Associated morphology False Trisomy Inferred relationship Some
Edward's syndrome NOS Associated morphology False Trisomy Inferred relationship Some
Complete trisomy 21 syndrome Associated morphology False Trisomy Inferred relationship Some 2
Trisomy 13, meiotic nondisjunction Associated morphology False Trisomy Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Associated morphology False Trisomy Inferred relationship Some 2
Trisomy 21- meiotic nondisjunction Associated morphology False Trisomy Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology True Trisomy Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Trisomy Inferred relationship Some 2
Complete trisomy 18 syndrome Associated morphology False Trisomy Inferred relationship Some 2
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Trisomy Inferred relationship Some
Down's syndrome NOS Associated morphology False Trisomy Inferred relationship Some
Patau's syndrome NOS Associated morphology False Trisomy Inferred relationship Some
Fetal complete trisomy 13 syndrome Associated morphology False Trisomy Inferred relationship Some
Fetal complete trisomy 18 syndrome (disorder) Associated morphology False Trisomy Inferred relationship Some
Fetal complete trisomy 21 syndrome Associated morphology True Trisomy Inferred relationship Some 1
Periodontitis co-occurrent with Down syndrome Associated morphology False Trisomy Inferred relationship Some 2
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. Associated morphology False Trisomy Inferred relationship Some 4
Complete trisomy 8 syndrome Associated morphology True Trisomy Inferred relationship Some 2
Myeloid leukemia associated with Down syndrome (disorder) Associated morphology False Trisomy Inferred relationship Some 3
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) Associated morphology True Trisomy Inferred relationship Some 2
Dementia with Down syndrome Associated morphology True Trisomy Inferred relationship Some 3
Trisomy 13 Is a True Trisomy Inferred relationship Some
Trisomy 18 (morphologic abnormality) Is a True Trisomy Inferred relationship Some
Trisomy 21 (morphologic abnormality) Is a True Trisomy Inferred relationship Some
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. Associated morphology True Trisomy Inferred relationship Some 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 Inferred relationship Some 2
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (including ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (including hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. Associated morphology True Trisomy Inferred relationship Some 2
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. Associated morphology True Trisomy Inferred relationship Some 2
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. Associated morphology True Trisomy Inferred relationship Some 2
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. Associated morphology True Trisomy Inferred relationship Some 2
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. Associated morphology True Trisomy Inferred relationship Some 2
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed. Associated morphology True Trisomy Inferred relationship Some 2
Trisomy 10 Associated morphology True Trisomy Inferred relationship Some 1
Mosaic trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorly rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. Associated morphology True Trisomy Inferred relationship Some 1
Trisomy 12 Associated morphology True Trisomy Inferred relationship Some 1
Trisomy 22 Associated morphology True Trisomy Inferred relationship Some 1
Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported. Associated morphology False Trisomy Inferred relationship Some 1
Mosaic trisomy 16 syndrome Associated morphology False Trisomy Inferred relationship Some 1
Complete trisomy 9 syndrome Associated morphology True Trisomy Inferred relationship Some 1

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