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71678009: Chromosome pair 15 (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
119085012 Chromosome pair 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1204436012 Chromosome pair 15 (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
Chromosome pair 15 Is a Chromosome true Inferred relationship Some
Chromosome pair 15 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Anomaly of chromosome pair 15 Finding site False Chromosome pair 15 Inferred relationship Some 1
15q partial monosomy syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
15q partial trisomy syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
Angelman syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
Prader-Willi syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
15q partial trisomy syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
Anomaly of chromosome pair 15 Finding site False Chromosome pair 15 Inferred relationship Some 1
Prader-Willi syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
15q partial monosomy syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
Anomaly of chromosome pair 15 Finding site True Chromosome pair 15 Inferred relationship Some 1
Prader-Willi syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
15q partial monosomy syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
15q24 microdeletion Finding site False Chromosome pair 15 Inferred relationship Some 1
15q13.3 microdeletion Finding site False Chromosome pair 15 Inferred relationship Some 1
15q partial trisomy syndrome Finding site False Chromosome pair 15 Inferred relationship Some 1
Angelman syndrome Finding site False Chromosome pair 15 Inferred relationship Some 3
15q partial monosomy syndrome Finding site False Chromosome pair 15 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. Finding site False Chromosome pair 15 Inferred relationship Some 1
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. Finding site True Chromosome pair 15 Inferred relationship Some 2
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. Finding site False Chromosome pair 15 Inferred relationship Some 3
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures. Finding site True Chromosome pair 15 Inferred relationship Some 1
Deletion of part of chromosome 15 (disorder) Finding site True Chromosome pair 15 Inferred relationship Some 1
Partial trisomy of chromosome 15 (disorder) Finding site True Chromosome pair 15 Inferred relationship Some 1
A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias). Finding site True Chromosome pair 15 Inferred relationship Some 1
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. Finding site True Chromosome pair 15 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. Finding site True Chromosome pair 15 Inferred relationship Some 1
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. Finding site False Chromosome pair 15 Inferred relationship Some 1
15q13.3 microduplication syndrome (disorder) Finding site False Chromosome pair 15 Inferred relationship Some 1
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). Finding site True Chromosome pair 15 Inferred relationship Some 2
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Finding site True Chromosome pair 15 Inferred relationship Some 4
Distal deletion of chromosome 15 (disorder) Finding site True Chromosome pair 15 Inferred relationship Some 1
Distal duplication of chromosome 15 (disorder) Finding site True Chromosome pair 15 Inferred relationship Some 1
Maternal 15q11q13 deletion Finding site False Chromosome pair 15 Inferred relationship Some 1
Maternal 15q11q13 deletion Finding site False Chromosome pair 15 Inferred relationship Some 2
Maternal uniparental disomy of chromosome 15 Finding site True Chromosome pair 15 Inferred relationship Some 1
Paternal uniparental disomy of chromosome 15 Finding site True Chromosome pair 15 Inferred relationship Some 1
Proximal deletion of chromosome 15 Finding site True Chromosome pair 15 Inferred relationship Some 1
Proximal duplication of chromosome 15 (disorder) Finding site True Chromosome pair 15 Inferred relationship Some 1
Tetrasomy 15q (disorder) Finding site True Chromosome pair 15 Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Finding site True Chromosome pair 15 Inferred relationship Some 2
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. Finding site True Chromosome pair 15 Inferred relationship Some 2
15q13.3 microdeletion Finding site True Chromosome pair 15 Inferred relationship Some 2
15q24 microdeletion Finding site True Chromosome pair 15 Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) Finding site True Chromosome pair 15 Inferred relationship Some 2
15q13.3 microduplication syndrome (disorder) Finding site True Chromosome pair 15 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. Finding site True Chromosome pair 15 Inferred relationship Some 2

This concept is not in any reference sets

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