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778073001: 3q26 microduplication syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3737638017 3q26 microduplication syndrome en Synonym Active Case insensitive SNOMED CT core
3737639013 Trisomy 3q26 en Synonym Active Case insensitive SNOMED CT core
3737640010 3q26 microduplication syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3737641014 A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
3q26 microduplication syndrome Occurrence Congenital true Inferred relationship Some 1
3q26 microduplication syndrome Is a Partial trisomy of chromosome 3 true Inferred relationship Some
3q26 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Some 1
3q26 microduplication syndrome Finding site Long arm of chromosome true Inferred relationship Some 1
3q26 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Some 2
3q26 microduplication syndrome Occurrence Congenital true Inferred relationship Some 2
3q26 microduplication syndrome Finding site Chromosome pair 3 true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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