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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
Proximal duplication of long arm of chromosome 3 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 4 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 18 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 2 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 12 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 10 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 12 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 10 Associated morphology True Partial trisomy Inferred relationship Some 2
Mosaic 1q duplication Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 9 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 11 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 9 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 11 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 6 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 2 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 6 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 2 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 8 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of long arm of chromosome 8 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal duplication of chromosome 21 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 14 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of chromosome 13 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Proximal duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 2
7q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
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 2
Medial duplication of long arm of chromosome 7 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 3
7p partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
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 2
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. Associated morphology True Partial trisomy Inferred relationship Some 2
22q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
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 2
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from an asymptomatic parent. Associated morphology True Partial trisomy Inferred relationship Some 2
21q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
21q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
21q partial distal trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
21q partial distal trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy 21 in Down's syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
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 True Partial trisomy Inferred relationship Some 1
20q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
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 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 2
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 2
14q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
14q partial proximal trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
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 2
5p partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 2
Medial duplication of long arm of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. Associated morphology True Partial trisomy Inferred relationship Some 1
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. Associated morphology True Partial trisomy Inferred relationship Some 2
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. Associated morphology True Partial trisomy Inferred relationship Some 3
A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. Associated morphology True Partial trisomy Inferred relationship Some 2
Xq28-Duplikationssyndrom, proximales Associated morphology False 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 2
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. Associated morphology True Partial trisomy Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
15q13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
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 2
Duplication of part of short arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. Associated morphology True Partial trisomy Inferred relationship Some 2
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 2
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 2
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 2
Duplication of part of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Duplication of part of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
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 2
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed. Associated morphology True Partial trisomy Inferred relationship Some 1
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed. Associated morphology True Partial trisomy Inferred relationship Some 2
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Associated morphology True Partial trisomy Inferred relationship Some 1
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Associated morphology True Partial trisomy Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. Associated morphology True Partial trisomy Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. Associated morphology True Partial trisomy Inferred relationship Some 2
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. Associated morphology True Partial trisomy Inferred relationship Some 1
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. Associated morphology True Partial trisomy Inferred relationship Some 2

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