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46507000: Chromosome pair 1 (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
77520019 Chromosome pair 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1203290012 Chromosome pair 1 (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 1 Is a Chromosome true Inferred relationship Some
Chromosome pair 1 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
1q partial monosomy Finding site False Chromosome pair 1 Inferred relationship Some 2
1p partial monosomy Finding site False Chromosome pair 1 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 1
Anomaly of chromosome pair 1 Finding site False Chromosome pair 1 Inferred relationship Some 1
1q partial trisomy syndrome Finding site False Chromosome pair 1 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 2
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 2
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 2
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 2
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site True Chromosome pair 1 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 2
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 2
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 1
1p partial monosomy Finding site False Chromosome pair 1 Inferred relationship Some 1
1q partial trisomy syndrome Finding site False Chromosome pair 1 Inferred relationship Some 1
Anomaly of chromosome pair 1 Finding site False Chromosome pair 1 Inferred relationship Some 1
1q partial monosomy Finding site False Chromosome pair 1 Inferred relationship Some 1
1q partial monosomy Finding site True Chromosome pair 1 Inferred relationship Some 1
1q partial trisomy syndrome Finding site False Chromosome pair 1 Inferred relationship Some 1
1p partial monosomy Finding site True Chromosome pair 1 Inferred relationship Some 1
1p partial monosomy Finding site False Chromosome pair 1 Inferred relationship Some 2
Chromosome 1p36 deletion syndrome (disorder) Finding site False Chromosome pair 1 Inferred relationship Some 1
Anomaly of chromosome pair 1 Finding site True Chromosome pair 1 Inferred relationship Some 1
1q21.1 microdeletion Finding site False Chromosome pair 1 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Finding site False Chromosome pair 1 Inferred relationship Some 1
1q partial monosomy Finding site False Chromosome pair 1 Inferred relationship Some 2
1q21.1 microdeletion Finding site True Chromosome pair 1 Inferred relationship Some 2
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. Finding site True Chromosome pair 1 Inferred relationship Some 2
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. Finding site False Chromosome pair 1 Inferred relationship Some 3
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. Finding site False Chromosome pair 1 Inferred relationship Some 1
1q21.1 microdeletion Finding site False Chromosome pair 1 Inferred relationship Some 3
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 Chromosome pair 1 Inferred relationship Some 2
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Finding site False Chromosome pair 1 Inferred relationship Some 3
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Finding site True Chromosome pair 1 Inferred relationship Some 2
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Finding site False Chromosome pair 1 Inferred relationship Some 3
Partial trisomy of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Some 1
Partial trisomy of short arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Some 3
Deletion of part of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Some 1
Chromosome 1p36 deletion syndrome (disorder) Finding site True Chromosome pair 1 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 Chromosome pair 1 Inferred relationship Some 1
Paternal uniparental disomy of chromosome 1 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Finding site True Chromosome pair 1 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 False Chromosome pair 1 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 Chromosome pair 1 Inferred relationship Some 2
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. Finding site True Chromosome pair 1 Inferred relationship Some 2
Partial trisomy of long arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Some 2
Maternal uniparental disomy of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Some 1
1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. Finding site True Chromosome pair 1 Inferred relationship Some 2
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. Finding site True Chromosome pair 1 Inferred relationship Some 1
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. Finding site True Chromosome pair 1 Inferred relationship Some 2
Distal trisomy 1p Finding site True Chromosome pair 1 Inferred relationship Some 2
Distal trisomy 1q (disorder) Finding site True Chromosome pair 1 Inferred relationship Some 2
Distal deletion of short arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Some 1
Distal deletion of short arm of chromosome 1 (disorder) Finding site False Chromosome pair 1 Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Some 1
Medial deletion of short arm of chromosome 1 Finding site False Chromosome pair 1 Inferred relationship Some 3
Medial deletion of long arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Some 1
Medial deletion of long arm of chromosome 1 Finding site False Chromosome pair 1 Inferred relationship Some 3
Medial duplication of long arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Some 1
Mosaic 1q duplication Finding site True Chromosome pair 1 Inferred relationship Some 1
Mosaic 1q duplication Finding site True Chromosome pair 1 Inferred relationship Some 3
Medial duplication of short arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Some 1
Proximal duplication of short arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Some 2
Proximal deletion of long arm of chromosome 1 (disorder) Finding site True Chromosome pair 1 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 (disorder) Finding site False Chromosome pair 1 Inferred relationship Some 3
Proximal duplication of long arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 Finding site True Chromosome pair 1 Inferred relationship Some 1
Proximal deletion of short arm of chromosome 1 Finding site False Chromosome pair 1 Inferred relationship Some 3
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. Finding site True Chromosome pair 1 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 Chromosome pair 1 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 Chromosome pair 1 Inferred relationship Some 2

This concept is not in any reference sets

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