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770563005: Maternal uniparental disomy of chromosome 13 (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3701287015 Maternal uniparental disomy of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3701288013 Maternal uniparental disomy of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3701289017 A uniparental disomy of chromosome 13 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 the mother is a carrier. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4223141000052117 maternell uniparental disomi i kromosom 13 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maternal uniparental disomy of chromosome 13	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 13	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 13	Occurrence	Congenital	true	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 13	Is a	Anomaly of chromosome pair 13	true	Inferred relationship	Some
Maternal uniparental disomy of chromosome 13	Is a	Uniparental disomy of maternal origin (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3701287015	Maternal uniparental disomy of chromosome 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701288013	Maternal uniparental disomy of chromosome 13 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701289017	A uniparental disomy of chromosome 13 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 the mother is a carrier.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4223141000052117	maternell uniparental disomi i kromosom 13	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)