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270521004: Trisomy and partial trisomy of autosome (disorder)

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
405160017 Trisomy and partial trisomy of autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
663157011 Trisomy and partial trisomy of autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5110721000241115 trisomie et trisomie partielle des autosomes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

231 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trisomy and partial trisomy of autosome Is a Congenital chromosomal disease true Inferred relationship Some
Trisomy and partial trisomy of autosome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Trisomy and partial trisomy of autosome Occurrence Congenital false Inferred relationship Some
Trisomy and partial trisomy of autosome Finding site Chromosome structure false Inferred relationship Some 1
Trisomy and partial trisomy of autosome Associated morphology anomalie congénitale false Inferred relationship Some 1
Trisomy and partial trisomy of autosome Associated morphology anomalie congénitale false Inferred relationship Some
Trisomy and partial trisomy of autosome Finding site Chromosome structure false Inferred relationship Some 1
Trisomy and partial trisomy of autosome Occurrence Congenital true Inferred relationship Some 1
Trisomy and partial trisomy of autosome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Trisomy and partial trisomy of autosome Finding site Chromosome structure true Inferred relationship Some 1
Trisomy and partial trisomy of autosome Is a Autosomal duplication (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
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. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Mosaic trisomy 16 syndrome Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
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. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
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. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
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. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
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. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some
A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. Is a True Trisomy and partial trisomy of autosome Inferred relationship Some

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