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778073001: 3q26 microduplication syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3737638017 3q26 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737639013 Trisomy 3q26 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737640010 3q26 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
4225601000052110 3q26-mikroduplikationssyndromet sv Synonym (core metadata concept) Active Only initial character 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
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

This concept is not in any reference sets

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