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41669009: Alteration of chromosome structure (morphologic abnormality)

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
69509012 Alteration of chromosome structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
778483011 Alteration of chromosome structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

22 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alteration of chromosome structure Is a Chromosomal morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Uniparental disomy of maternal origin (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Uniparental disomy of paternal origin (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Associated morphology True Alteration of chromosome structure 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. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 21 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. Associated morphology True Alteration of chromosome structure 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. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 7 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 (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 5 (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 1 (disorder) Associated morphology True Alteration of chromosome structure 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. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 13 is an 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. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 13 is a uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 15 Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 11 Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 14 Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 7 (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 4 Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 15 Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 14 Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 11 Associated morphology True Alteration of chromosome structure Inferred relationship Some 1

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