SNOMED CT

Last uploaded: August 28, 2024
Preferred Name

Fragile X chromosome
Synonyms

Fragile X chromosome (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/205720009

Active

1

altLabel

Fragile X chromosome (disorder)

CASE SIGNIFICANCE ID

900000000000020002

CTV3ID

PJyy2

cui

C0432482

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Focus of

http://purl.bioontology.org/ontology/SNOMEDCT/724149001

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/107675007

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/72837006

notation

205720009

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

prefLabel

Fragile X chromosome

Subset member

6011000124106~MAPTARGET~Z14.8

447562003~MAPRULE~TRUE

6011000124106~MAPTARGET~F78.A9

6011000124106~MAPADVICE~ALWAYS Q99.2

6011000124106~MAPADVICE~IF SYMPTOMATIC FORM OF FRAGILE X SYNDROME IN FEMALE CARRIER CHOOSE Q99.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPADVICE~IF FRAXE INTELLECTUAL DISABILITY SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 716709002 | FRAXE intellectual disability syndrome |

6011000124106~MAPRULE~IFA 1237344003 | Symptomatic form of fragile X syndrome in female carrier |

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

447562003~MAPADVICE~ALWAYS Q99.2

447562003~MAPTARGET~Q99.2

900000000000497000~MAPTARGET~PJyy2

447562003~MAPGROUP~1

6011000124106~MAPTARGET~F79

447562003~CORRELATIONID~447561005

447562003~MAPRULE~OTHERWISE TRUE

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPTARGET~

447562003~MAPPRIORITY~1

447562003~MAPADVICE~SOURCE SNOMED CONCEPT IS AMBIGUOUS

6011000124106~MAPADVICE~IF FRAXE INTELLECTUAL DISABILITY SYNDROME CHOOSE Q99.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q99.2

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPADVICE~IF FRAXE INTELLECTUAL DISABILITY SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPRULE~IFA 254287005 | FRAXA (disorder) |

6011000124106~MAPADVICE~IF SYMPTOMATIC FORM OF FRAGILE X SYNDROME IN FEMALE CARRIER CHOOSE Z14.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPPRIORITY~3

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

447562003~MAPCATEGORYID~447640006

447562003~MAPPRIORITY~2

6011000124106~MAPRULE~TRUE

447562003~MAPRULE~IFA 254288000 | FRAXE (disorder) |

6011000124106~MAPPRIORITY~3

6011000124106~MAPPRIORITY~2

6011000124106~MAPRULE~IFA 716709002 | FRAXE intellectual disability syndrome (disorder) |

tui

T019

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/111312006

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