613003: Fragile X syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Fragile X syndrome

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Fragile X syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Fragile X syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Fragile X syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fragile X syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Fragile X syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\Fragile X syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\Fragile X syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Fragile X syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Fragile X syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fragile X syndrome	Is a	Multiple malformation syndrome with early overgrowth	false	Inferred relationship	Some
Fragile X syndrome	Is a	Congenital chromosomal disease	false	Inferred relationship	Some
Fragile X syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Fragile X syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Fragile X syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Fragile X syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Fragile X syndrome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Fragile X syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Fragile X syndrome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Fragile X syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Fragile X syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Fragile X syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Fragile X syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Fragile X syndrome	Finding site	Chromosome structure	false	Inferred relationship	Some	2
Fragile X syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Fragile X syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Fragile X syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Fragile X syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Fragile X syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	1
Fragile X syndrome	Is a	Fragile X chromosome	true	Inferred relationship	Some
Fragile X syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Fragile X syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Fragile X syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Fragile X syndrome	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	1
Fragile X syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Fragile X syndrome	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
Fragile X syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Fragile X syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Fragile X syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Fragile X syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fragile X chromosome	Is a	False	Fragile X syndrome	Inferred relationship	Some
Family history of fragile X syndrome (situation)	Associated finding	True	Fragile X syndrome	Inferred relationship	Some	1
Symptomatic form of fragile X syndrome in female carrier (disorder)	Is a	True	Fragile X syndrome	Inferred relationship	Some
Dementia due to fragile X syndrome (disorder)	Due to	True	Fragile X syndrome	Inferred relationship	Some	3

Reference Sets

Belgian subset for medical problems in patient health records

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Id	Description	Lang	Type	Status	Case?	Module
2090010	Fragile X syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2091014	Martin-Bell syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2092019	Marker X syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
800348018	Fragile X syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5244212011	FRAXA (fragile X) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
888401000172116	FXS - fragile X syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
947921000172116	syndrome de l'X fragile	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
930121000172119	FRAXA (fragiele X)-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
932281000172114	fragiele X-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)