FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.8.2 | FHIR Version n/a User: [n/a]

613003: Fragile X syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\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\Fragile X syndrome
\Disease\Chromosomal 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 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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Congenital disease\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fragile X syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1232202017 FRAXA - Fragile X syndrome en Synonym Active Case sensitive SNOMED CT core

2090010 Fragile X syndrome en Synonym Active Initial character case insensitive SNOMED CT core

2091014 Martin-Bell syndrome en Synonym Active Case sensitive SNOMED CT core

2092019 Marker X syndrome en Synonym Active Initial character case insensitive SNOMED CT core

800348018 Fragile X syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fragile X syndrome	Pathological process	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	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	true	Inferred relationship	Some
Fragile X syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Fragile X syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Fragile X syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Fragile X syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Fragile X syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
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	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	false	Inferred relationship	Some	1
Fragile X syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Fragile X syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Fragile X syndrome	Finding site	Chromosome structure	false	Inferred relationship	Some	2
Fragile X syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Fragile X syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Fragile X syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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