778073001: syndrome de microduplication 3q26 (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q26 microduplication syndrome
\anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q26 microduplication syndrome
\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3\3q26 microduplication syndrome
\anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q26 microduplication syndrome

\Congenital disease\maladie chromosomique congénitale\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3\3q26 microduplication syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3q26 microduplication syndrome

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

785431000241110 syndrome de microduplication 3q26 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

967661000172113 dup(3)(q26) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

998741000172117 syndrome de microduplication 3q26 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3q26 microduplication syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
3q26 microduplication syndrome	est un(e) (attribut)	Partial trisomy of chromosome 3	true	Inferred relationship	Some
3q26 microduplication syndrome	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	1
3q26 microduplication syndrome	localisation d'une constatation (attribut)	Long arm of chromosome (cell structure)	true	Inferred relationship	Some	1
3q26 microduplication syndrome	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	2
3q26 microduplication syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
3q26 microduplication syndrome	localisation d'une constatation (attribut)	Chromosome pair 3 (cell structure)	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets