FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

77826001: Chromosome pair 8 (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
129157014 Chromosome pair 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1204698018 Chromosome pair 8 (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 8 Is a Chromosome true Inferred relationship Some
Chromosome pair 8 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
8q partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8p partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
Anomaly of chromosome pair 8 Finding site False Chromosome pair 8 Inferred relationship Some 1
Complete trisomy 8 syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8p partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 2
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 2
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 2
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 2
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 2
8p partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
Anomaly of chromosome pair 8 Finding site False Chromosome pair 8 Inferred relationship Some 1
Complete trisomy 8 syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8p partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8q partial trisomy syndrome Finding site True Chromosome pair 8 Inferred relationship Some 1
Anomaly of chromosome pair 8 Finding site True Chromosome pair 8 Inferred relationship Some 1
Complete trisomy 8 syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8p partial monosomy syndrome Finding site True Chromosome pair 8 Inferred relationship Some 1
8q partial monosomy syndrome Finding site True Chromosome pair 8 Inferred relationship Some 1
8p partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Some 1
8p partial monosomy syndrome Finding site True Chromosome pair 8 Inferred relationship Some 2
8q partial monosomy syndrome Finding site True Chromosome pair 8 Inferred relationship Some 2
Complete trisomy 8 syndrome Finding site True Chromosome pair 8 Inferred relationship Some 2
A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. Finding site True Chromosome pair 8 Inferred relationship Some 1
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. Finding site True Chromosome pair 8 Inferred relationship Some 2
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. Finding site True Chromosome pair 8 Inferred relationship Some 3
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Finding site True Chromosome pair 8 Inferred relationship Some 1
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. Finding site True Chromosome pair 8 Inferred relationship Some 1
A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%). Finding site True Chromosome pair 8 Inferred relationship Some 1
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. Finding site True Chromosome pair 8 Inferred relationship Some 2
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. Finding site True Chromosome pair 8 Inferred relationship Some 3
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. Finding site True Chromosome pair 8 Inferred relationship Some 2
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. Finding site True Chromosome pair 8 Inferred relationship Some 3
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Finding site False Chromosome pair 8 Inferred relationship Some 4
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Finding site False Chromosome pair 8 Inferred relationship Some 5
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. Finding site True Chromosome pair 8 Inferred relationship Some 1
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Finding site False Chromosome pair 8 Inferred relationship Some 4
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Finding site False Chromosome pair 8 Inferred relationship Some 3
Deletion of part of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 1
Partial trisomy of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Some 1
Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). Finding site True Chromosome pair 8 Inferred relationship Some 1
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 Chromosome pair 8 Inferred relationship Some 2
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 Chromosome pair 8 Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Some 1
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Finding site True Chromosome pair 8 Inferred relationship Some 2
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Finding site True Chromosome pair 8 Inferred relationship Some 2
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Finding site True Chromosome pair 8 Inferred relationship Some 1
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Finding site True Chromosome pair 8 Inferred relationship Some 1
Distal deletion of long arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 1
Distal deletion of long arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 2
Distal trisomy 8p (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 2
Distal deletion of short arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 1
Proximal duplication of short arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Some 2
Proximal deletion of long arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Some 3
Proximal duplication of long arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 2
Distal deletion of short arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 2
Proximal deletion of short arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 1
Proximal deletion of short arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Some 2
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Finding site True Chromosome pair 8 Inferred relationship Some 2
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Finding site True Chromosome pair 8 Inferred relationship Some 1
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Finding site True Chromosome pair 8 Inferred relationship Some 4

This concept is not in any reference sets

Back to Start