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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
69509012 Alteration of chromosome structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Uniparental disomy of maternal origin (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Uniparental disomy of paternal origin (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 2 (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 6 (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 9 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 4 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 21 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 1 (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 7 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Small ring X chromosome (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 5 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 1 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 Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 13 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 16 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 21 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 22 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic genome-wide paternal uniparental disomy Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome X Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome X Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 15 (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 11 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 14 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 7 (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 4 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 15 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 14 Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Uniparental disomy of paternal origin of chromosome 11 (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1

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