613003: Fragile X syndrome (disorder)

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

\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

\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\Mental disorder\Developmental mental disorder\Intellectual disability\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\Developmental mental 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	medfödd missbildning	false	Inferred relationship	Some
Fragile X syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Fragile X syndrome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Fragile X syndrome	Associated morphology	kongenital anomali	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	utvecklingsabnormitet	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

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

This concept is not in any reference sets

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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
1232202017	FRAXA - Fragile X syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2513401000052119	fragil X-syndromet	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)