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770670003: Paternal uniparental disomy of chromosome 6 (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
3701938013 Paternal uniparental disomy of chromosome 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701939017 Paternal uniparental disomy of chromosome 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701940015 Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin with characteristics of intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4212621000052119 paternell uniparental disomi för kromosom 6 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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