716709002: syndroom van FRAXE en verstandelijke beperking (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\FRAXE intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\FRAXE intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\FRAXE intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\FRAXE intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\FRAXE intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\FRAXE intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\FRAXE intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXE intellectual disability syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXE intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\FRAXE intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\FRAXE intellectual disability syndrome (disorder)
\Disease\Developmental disorder\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FRAXE intellectual disability syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Is a	Fragile X chromosome	true	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	1
FRAXE intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
FRAXE intellectual disability syndrome (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	1
FRAXE intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
FRAXE intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
FRAXE intellectual disability syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
FRAXE intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
FRAXE intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
FRAXE intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
6939981000146119	syndroom van FRAXE en mentale retardatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494871000146118	syndroom van FRAXE en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7719671000146111	syndroom van FRAXE en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7822851000146119	FRAXE-syndroom en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core