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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
129157014 Chromosome pair 8 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
129157014 Chromosome pair 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
818699010 Chromosome pair 8 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204698018 Chromosome pair 8 (cell structure) en Fully specified name Active Only initial character 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 Existential restriction modifier (core metadata concept)
Chromosome pair 8 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
8q partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial monosomy syndrome (disorder) Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 8 Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 8 syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
8p partial monosomy syndrome (disorder) Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 8 Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 8 syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial trisomy syndrome Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 8 Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 8 syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial monosomy syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial trisomy syndrome Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial monosomy syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 8 syndrome Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ring chromosome 8 syndrome Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Mosaic trisomy 8 syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Recombinant chromosome 8 syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
8q21.11 microdeletion syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
8q21.11 microdeletion syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 3
8p11.2 deletion syndrome is a contiguous gene syndrome characterised by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
8p11.2 deletion syndrome is a contiguous gene syndrome characterised by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 3
8q22.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 4
8q22.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 5
8q12 microduplication syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 8q (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Trisomy 8p syndrome Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of short arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
8q22.1 microdeletion syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
8q22.1 microdeletion syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 8p (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of short arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal duplication of long arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of short arm of chromosome 8 (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 8 Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 8 syndrome (disorder) Finding site True Chromosome pair 8 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4

This concept is not in any reference sets

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