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45202000: Chromosome pair 6 (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
75371015 Chromosome pair 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1203236016 Chromosome pair 6 (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 6 Is a Chromosome true Inferred relationship Some
Chromosome pair 6 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Anomaly of chromosome pair 6 Finding site False Chromosome pair 6 Inferred relationship Some 1
6q partial trisomy syndrome Finding site False Chromosome pair 6 Inferred relationship Some 1
6p partial trisomy syndrome Finding site False Chromosome pair 6 Inferred relationship Some 1
6p partial trisomy syndrome Finding site False Chromosome pair 6 Inferred relationship Some 1
6q partial trisomy syndrome Finding site False Chromosome pair 6 Inferred relationship Some 1
Anomaly of chromosome pair 6 Finding site False Chromosome pair 6 Inferred relationship Some 1
6p partial trisomy syndrome Finding site True Chromosome pair 6 Inferred relationship Some 1
Anomaly of chromosome pair 6 Finding site True Chromosome pair 6 Inferred relationship Some 1
6q partial trisomy syndrome Finding site True Chromosome pair 6 Inferred relationship Some 1
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Finding site False Chromosome pair 6 Inferred relationship Some 2
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Finding site True Chromosome pair 6 Inferred relationship Some 3
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Finding site True Chromosome pair 6 Inferred relationship Some 2
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Finding site False Chromosome pair 6 Inferred relationship Some 3
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. Finding site True Chromosome pair 6 Inferred relationship Some 2
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. Finding site True Chromosome pair 6 Inferred relationship Some 3
A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association. Finding site True Chromosome pair 6 Inferred relationship Some 2
A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association. Finding site True Chromosome pair 6 Inferred relationship Some 3
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. Finding site True Chromosome pair 6 Inferred relationship Some 1
Deletion of part of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 1
Deletion of part of long arm of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 3
Deletion of part of short arm of chromosome 6 (disorder) Finding site False Chromosome pair 6 Inferred relationship Some 2
Deletion of part of short arm of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 3
Partial trisomy of chromosome 6 Finding site True Chromosome pair 6 Inferred relationship Some 1
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short, webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. Finding site True Chromosome pair 6 Inferred relationship Some 1
Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (including microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. Finding site True Chromosome pair 6 Inferred relationship Some 1
Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. Finding site True Chromosome pair 6 Inferred relationship Some 1
Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. Finding site True Chromosome pair 6 Inferred relationship Some 1
Distal deletion of long arm of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 1
Distal deletion of long arm of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 2
6q16 microdeletion syndrome Finding site True Chromosome pair 6 Inferred relationship Some 3
6q16 microdeletion syndrome Finding site True Chromosome pair 6 Inferred relationship Some 6
Proximal duplication of long arm of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 2
Proximal duplication of short arm of chromosome 6 Finding site True Chromosome pair 6 Inferred relationship Some 2
Proximal deletion of long arm of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 6 (disorder) Finding site True Chromosome pair 6 Inferred relationship Some 2
Proximal deletion of short arm of chromosome 6 Finding site True Chromosome pair 6 Inferred relationship Some 1
Proximal deletion of short arm of chromosome 6 Finding site False Chromosome pair 6 Inferred relationship Some 2

This concept is not in any reference sets

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