716709002: FRAXE intellectual disability syndrome (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Developmental hereditary disorder\FRAXE intellectual disability syndrome (disorder)
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\FRAXE intellectual disability syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXE intellectual disability syndrome (disorder)
• \trouble mental\troubles mentaux du développement\Intellectual disability\FRAXE intellectual disability syndrome (disorder)
• \Congenital disease\Congenital malformation\FRAXE intellectual disability syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXE intellectual disability syndrome (disorder)
• \trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\FRAXE intellectual disability syndrome (disorder)
• \trouble du développement\Developmental hereditary disorder\FRAXE intellectual disability syndrome (disorder)
• \trouble du développement\Congenital malformation\FRAXE intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3307279015	FRAXE intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307280017	FRAXE intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307281018	Intellectual disability associated with fragile site FRAXE	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307282013	FRAXE is a form of nonsyndromic X-linked mental retardation with characteristic of mild intellectual deficit. The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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