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278145009: Short arm of chromosome (cell structure)

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
414960017 Short arm of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1187509017 Short arm of chromosome (cell structure) 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
Short arm of chromosome Is a Chromosome structure true Inferred relationship Some
Short arm of chromosome partie de Cell false Inferred relationship Some
Short arm of chromosome partie de Entire body as a whole false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Deletion of short arm of chromosome 19 (disorder) Finding site False Short arm of chromosome Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
Partial trisomy of short arm of chromosome 19 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. Finding site False Short arm of chromosome Inferred relationship Some 2
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). Finding site True Short arm of chromosome Inferred relationship Some 1
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. Finding site True Short arm of chromosome Inferred relationship Some 1
Partial trisomy of short arm of chromosome 8 Finding site True Short arm of chromosome Inferred relationship Some 2
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). Finding site False Short arm of chromosome Inferred relationship Some 2
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Finding site False Short arm of chromosome Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). Finding site True Short arm of chromosome Inferred relationship Some 1
A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Finding site True Short arm of chromosome Inferred relationship Some 2
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. Finding site True Short arm of chromosome Inferred relationship Some 1
A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). Finding site False Short arm of chromosome Inferred relationship Some 2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterised by intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations. Finding site True Short arm of chromosome Inferred relationship Some 1
A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. Finding site True Short arm of chromosome Inferred relationship Some 1
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Finding site False Short arm of chromosome Inferred relationship Some 1
Distal trisomy 1p Finding site True Short arm of chromosome Inferred relationship Some 1
Distal trisomy 8p (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
Distal trisomy 9p (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 Finding site True Short arm of chromosome Inferred relationship Some 2
Medial duplication of short arm of chromosome 1 Finding site True Short arm of chromosome Inferred relationship Some 2
Proximal duplication of short arm of chromosome 7 Finding site True Short arm of chromosome Inferred relationship Some 1
Proximal duplication of short arm of chromosome 9 Finding site True Short arm of chromosome Inferred relationship Some 2
Proximal duplication of short arm of chromosome 8 Finding site True Short arm of chromosome Inferred relationship Some 1
Proximal duplication of short arm of chromosome 6 Finding site True Short arm of chromosome Inferred relationship Some 1
Proximal duplication of short arm of chromosome 2 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
Proximal duplication of short arm of chromosome 3 Finding site True Short arm of chromosome Inferred relationship Some 2
Proximal duplication of short arm of chromosome 1 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
7p partial trisomy (disorder) Finding site True Short arm of chromosome 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. Finding site True Short arm of chromosome Inferred relationship Some 1
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. Finding site True Short arm of chromosome Inferred relationship Some 1
1p partial monosomy Finding site True Short arm of chromosome Inferred relationship Some 2
Chromosome 1p36 deletion syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. Finding site True Short arm of chromosome Inferred relationship Some 1
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Finding site True Short arm of chromosome Inferred relationship Some 1
Distal deletion of short arm of chromosome 1 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 Finding site True Short arm of chromosome Inferred relationship Some 2
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. Finding site True Short arm of chromosome Inferred relationship Some 2
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Finding site True Short arm of chromosome Inferred relationship Some 2
Deletion of part of short arm of chromosome 20 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) Finding site True Short arm of chromosome 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. Finding site True Short arm of chromosome Inferred relationship Some 2
Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. Finding site True Short arm of chromosome Inferred relationship Some 1
5p partial trisomy Finding site True Short arm of chromosome Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Finding site True Short arm of chromosome Inferred relationship Some 2
5p partial monosomy syndrome Finding site True Short arm of chromosome Inferred relationship Some 2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. Finding site True Short arm of chromosome Inferred relationship Some 1
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. Finding site True Short arm of chromosome Inferred relationship Some 1
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. Finding site True Short arm of chromosome Inferred relationship Some 1
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Finding site True Short arm of chromosome Inferred relationship Some 1
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent Finding site True Short arm of chromosome Inferred relationship Some 1
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Finding site True Short arm of chromosome Inferred relationship Some 1
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Finding site True Short arm of chromosome Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Finding site True Short arm of chromosome Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. Finding site True Short arm of chromosome Inferred relationship Some 1
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. Finding site True Short arm of chromosome Inferred relationship Some 1
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis. Finding site True Short arm of chromosome Inferred relationship Some 2
7p12-p14 deletion syndrome Finding site True Short arm of chromosome Inferred relationship Some 2
7p21.1 deletion syndrome Finding site True Short arm of chromosome Inferred relationship Some 2
Proximal deletion of short arm of chromosome 7 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
7p partial monosomy (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
Tetrasomy 18p Finding site True Short arm of chromosome Inferred relationship Some 2
Tetrasomy of short arm of chromosome 9 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Finding site True Short arm of chromosome Inferred relationship Some 1
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Finding site True Short arm of chromosome Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
Proximal deletion of short arm of chromosome 6 Finding site True Short arm of chromosome Inferred relationship Some 2
Deletion of part of short arm of chromosome 12 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterised by intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations. Finding site False Short arm of chromosome Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Finding site True Short arm of chromosome Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
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. Finding site True Short arm of chromosome 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. Finding site True Short arm of chromosome 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. Finding site True Short arm of chromosome 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. Finding site True Short arm of chromosome Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Finding site True Short arm of chromosome Inferred relationship Some 2
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. Finding site True Short arm of chromosome Inferred relationship Some 1
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Finding site True Short arm of chromosome Inferred relationship Some 2
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Finding site True Short arm of chromosome Inferred relationship Some 2
Deletion of part of short arm of chromosome 2 (disorder) Finding site True Short arm of chromosome Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Some 2
A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia. Finding site True Short arm of chromosome Inferred relationship Some 1
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. Finding site True Short arm of chromosome 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. Finding site True Short arm of chromosome Inferred relationship Some 1
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. Finding site True Short arm of chromosome Inferred relationship Some 1
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Finding site True Short arm of chromosome Inferred relationship Some 2

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