SNOMED CT

Last uploaded: January 31, 2024
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Preferred Name

Defects of the tubular (and flat) bones and/or axial skeleton
Synonyms

Defects of the tubular (and flat) bones and/or axial skeleton (disorder)
ID

http://purl.bioontology.org/ontology/SNOMEDCT/254043005
Active

1
altLabel

Defects of the tubular (and flat) bones and/or axial skeleton (disorder)
CASE SIGNIFICANCE ID

900000000000448009
CTV3ID

X789R
cui

C0432187
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/25723000
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/272673000
Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002
notation

254043005
Occurs in

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

Defects of the tubular (and flat) bones and/or axial skeleton
Subset member

6011000124106~MAPRULE~IFA 789777007 | Short-limb skeletal dysplasia with severe combined immunodeficiency |

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~IF ACHONDROPLASIA CHOOSE Q77.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF THANATOPHORIC DYSPLASIA CHOOSE Q77.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~4

6011000124106~MAPRULE~IFA 86268005 | Achondroplasia |

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

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPTARGET~Q78.6

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPRULE~IFA 389157002 | Thanatophoric dysplasia, type 1 |

6011000124106~MAPTARGET~L83

447562003~MAPADVICE~ALWAYS Q79.9

900000000000497000~MAPTARGET~X789R

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPRULE~IFA 389158007 | Thanatophoric dysplasia, type 2 |

6011000124106~MAPADVICE~IF THANATOPHORIC DYSPLASIA, TYPE 1 CHOOSE Q77.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPTARGET~Q79.9

6011000124106~MAPADVICE~IF CONGENITAL EXOSTOSIS CHOOSE Q78.6 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~ALWAYS Q77.9

6011000124106~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) |

6011000124106~MAPRULE~IFA 268276007 | Congenital exostosis (disorder) |

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPRULE~IFA 29352008 | Thanatophoric dysplasia |

447562003~MAPADVICE~ALWAYS M89.8 | FIFTH CHARACTER REQUIRED TO FURTHER SPECIFY THE SITE

6011000124106~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE L83 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~1

6011000124106~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE R62.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~CORRELATIONID~447561005

6011000124106~MAPTARGET~R62.50

6011000124106~MAPADVICE~IF SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY CHOOSE D81.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q77.4

6011000124106~MAPGROUP~3

6011000124106~MAPRULE~IFA 86268005 | Achondroplasia (disorder) |

6011000124106~MAPADVICE~IF THANATOPHORIC DYSPLASIA, TYPE 2 CHOOSE Q77.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPTARGET~M89.8

6011000124106~MAPTARGET~Q77.9

6011000124106~MAPPRIORITY~3

6011000124106~MAPPRIORITY~2

6011000124106~MAPTARGET~Q77.1

6011000124106~MAPRULE~IFA 29352008 | Thanatophoric dysplasia (disorder) |

6011000124106~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans |

6011000124106~MAPRULE~IFA 268276007 | Congenital exostosis |

6011000124106~MAPTARGET~D81.9
tui

T019
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/8447006

http://purl.bioontology.org/ontology/SNOMEDCT/105986008
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