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766239009: Maternal uniparental disomy of chromosome 6 (disorder)

\Anomaly of chromosome pair 6\Maternal uniparental disomy of chromosome 6 (disorder)

\Anomaly of chromosome pair 6\Maternal uniparental disomy of chromosome 6 (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3661202016 Maternal uniparental disomy of chromosome 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3661203014 Maternal uniparental disomy of chromosome 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404599018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404600015 Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterised by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maternal uniparental disomy of chromosome 6 (disorder)	Finding site	Chromosome pair 6	true	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 6 (disorder)	Is a	Uniparental disomy of maternal origin (disorder)	true	Inferred relationship	Some
Maternal uniparental disomy of chromosome 6 (disorder)	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 6 (disorder)	Is a	Anomaly of chromosome pair 6	true	Inferred relationship	Some
Maternal uniparental disomy of chromosome 6 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
3661202016	Maternal uniparental disomy of chromosome 6 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3661203014	Maternal uniparental disomy of chromosome 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404599018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404600015	Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterised by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core