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715735007: Maternal uniparental disomy of chromosome 20 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303561019 Maternal uniparental disomy of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303562014 Maternal uniparental disomy of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303563016 Maternal UPD20 (uniparental disomy of chromosome 20) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401065011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303561019 Maternal uniparental disomy of chromosome 20 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303561019 Maternal uniparental disomy of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303562014 Maternal uniparental disomy of chromosome 20 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303562014 Maternal uniparental disomy of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303563016 Maternal UPD20 (uniparental disomy of chromosome 20) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303564010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401065011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438131001000114 Uniparentale Disomie 20, maternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984661000172118 UPD(20) maternelle - disomie uniparentale maternelle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
985661000172119 disomie uniparentale maternelle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984661000172118 UPD(20) maternelle - disomie uniparentale maternelle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
985661000172119 disomie uniparentale maternelle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438131001000114 Uniparentale Disomie 20, maternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Anomaly of chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a Autosomal chromosomal disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
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 Cellular AND/OR subcellular abnormality false 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. Occurrence Congenital true 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. Finding site Chromosome pair 20 true 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. Is a Uniparental disomy of maternal origin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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 Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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