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133849008: Partial 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
213572013 Partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
738589017 Partial trisomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial trisomy Is a Trisomy true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
3p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
6p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
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 True Partial trisomy Inferred relationship Some 1
2p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
20q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
5p partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
8q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
18p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
9q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
12p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
14q partial proximal trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
14q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
9p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
13q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
12q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
18q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
19q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
16q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
2q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
4p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
7p partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
1q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
7q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
3q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
13p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
11q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
6q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
4q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
10p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
11p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
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 True Partial trisomy Inferred relationship Some 1
8p partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
16p partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
22q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
10q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
15q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Associated morphology True Partial trisomy Inferred relationship Some 1
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Associated morphology False Partial trisomy Inferred relationship Some 2
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. Associated morphology True Partial trisomy Inferred relationship Some 1
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. Associated morphology True Partial trisomy Inferred relationship Some 1
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Associated morphology True Partial trisomy Inferred relationship Some 1
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. Associated morphology True Partial trisomy Inferred relationship Some 1
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. Associated morphology True Partial trisomy Inferred relationship Some 1
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. Associated morphology True Partial trisomy Inferred relationship Some 1
Xq28-Duplikationssyndrom, proximales Associated morphology False Partial trisomy Inferred relationship Some 2
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. Associated morphology True Partial trisomy Inferred relationship Some 1
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. Associated morphology True Partial trisomy Inferred relationship Some 1
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. Associated morphology True Partial trisomy Inferred relationship Some 1
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Associated morphology False Partial trisomy Inferred relationship Some 5
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebrows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 3
Partial trisomy of chromosome 2 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 4 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of long arm of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy of long arm of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Some 3
Partial trisomy of chromosome 6 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 7 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 10 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 11 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 12 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 13 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 14 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 18 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 19 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of short arm of chromosome 19 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 19 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 3
Partial trisomy of chromosome 20 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 21 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 22 Associated morphology True Partial trisomy Inferred relationship Some 1
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. Associated morphology True Partial trisomy Inferred relationship Some 1
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. Associated morphology True Partial trisomy Inferred relationship Some 1
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. Associated morphology True Partial trisomy Inferred relationship Some 1
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. Associated morphology True Partial trisomy Inferred relationship Some 2
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. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short, webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). Associated morphology True Partial trisomy Inferred relationship Some 1
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (including brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (including microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
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. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (including microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip and/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (including brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. Associated morphology True Partial trisomy Inferred relationship Some 1

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