613003: Fragile X syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Fragile X syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Fragile X syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\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\Fragile X syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\Fragile X syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\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\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\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

2090010 Fragile X syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
2091014 Martin-Bell syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
2092019 Marker X syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
800348018 Fragile X syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
1232202017 FRAXA - Fragile X syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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	Existential restriction modifier
Fragile X syndrome	Is a	Congenital disorder due to abnormality of chromosome number OR structure	false	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Finding site	Chromosome structure	false	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Finding site	Chromosome structure	false	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Fragile X syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Fragile X syndrome	Finding site	Chromosome structure	false	Inferred relationship	Existential restriction modifier	2
Fragile X syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Fragile X syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Is a	Fragile X chromosome	true	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Fragile X syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Associated morphology	Chromosomal morphology	true	Inferred relationship	Existential restriction modifier	1
Fragile X syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Is a	X-linked dominant hereditary disease	true	Inferred relationship	Existential restriction modifier
Fragile X syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Fragile X syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Fragile X syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Fragile X syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2090010	Fragile X syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2091014	Martin-Bell syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2092019	Marker X syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
800348018	Fragile X syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1232202017	FRAXA - Fragile X syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module