726401004: Uniparental disomy of maternal origin (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Uniparental disomy (disorder)\Uniparental disomy of maternal origin (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Uniparental disomy (disorder)\Uniparental disomy of maternal origin (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498336018 Uniparental disomy of maternal origin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498337010 Uniparental disomy of maternal origin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498338017 Maternal uniparental disomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498336018 Uniparental disomy of maternal origin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498337010 Uniparental disomy of maternal origin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498338017 Maternal uniparental disomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Uniparental disomy of maternal origin (disorder)	Is a	Uniparental disomy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Uniparental disomy of maternal origin (disorder)	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Uniparental disomy of maternal origin (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Uniparental disomy of maternal origin (disorder)	Finding site	Chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 2 (disorder)	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 6 (disorder)	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 9	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 4	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 13	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 16	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 21	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 22	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome X	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 15 (disorder)	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 11	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 14	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 7 (disorder)	Is a	True	Uniparental disomy of maternal origin (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets