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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


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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