716709002: FRAXE intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\FRAXE intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\FRAXE intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\FRAXE intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\FRAXE intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\FRAXE intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\FRAXE intellectual disability syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXE intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\FRAXE intellectual disability syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXE intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\FRAXE intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\FRAXE intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\FRAXE intellectual disability syndrome

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3307280017	FRAXE intellectual disability syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3307281018	Intellectual disability associated with fragile site FRAXE	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5155296014	FRAXE is a form of nonsyndromic X-linked intellectual disability 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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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