SNOMED CT

Last uploaded: January 31, 2024
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Preferred Name

Osteochondrodysplasia with osteopetrosis
Synonyms

Osteochondrodysplasia with osteopetrosis (disorder)
ID

http://purl.bioontology.org/ontology/SNOMEDCT/50108000
Active

1
altLabel

Osteochondrodysplasia with osteopetrosis (disorder)
CASE SIGNIFICANCE ID

900000000000020002

900000000000448009
CTV3ID

XUFKc
cui

C0265300
DEFINITION STATUS ID

900000000000073002
Effective time

20190731
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/25723000

http://purl.bioontology.org/ontology/SNOMEDCT/49755003
Has clinical course

http://purl.bioontology.org/ontology/SNOMEDCT/255314001
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/113192009

http://purl.bioontology.org/ontology/SNOMEDCT/272673000
Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/281300000
Has pathological process

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

http://purl.bioontology.org/ontology/SNOMEDCT/43857005
notation

50108000
Occurs in

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

Osteochondrodysplasia with osteopetrosis
Subset member

6011000124106~MAPRULE~IFA 254131007 | Worth disease (disorder) |

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~IF LENZ-MAJEWSKI HYPEROSTOSIS SYNDROME CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~7

6011000124106~MAPPRIORITY~4

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

6011000124106~MAPRULE~IFA 89647000 | Pyknodysostosis |

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPRULE~IFA 17568006 | Sclerosteosis (disorder) |

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPRULE~IFA 1393001 | Lenz-Majewski hyperostosis syndrome (disorder) |

900000000000508004~ACCEPTABILITYID~900000000000549004

6011000124106~MAPRULE~IFA 254131007 | Worth disease |

447562003~MAPGROUP~1

447562003~MAPTARGET~Q78.2

6011000124106~MAPRULE~IFA 254132000 | Endosteal hyperostoses with cerebellar hypoplasia |

6011000124106~MAPADVICE~IF ENDOSTEAL HYPEROSTOSES WITH CEREBELLAR HYPOPLASIA CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF ENDOSTEAL HYPEROSTOSES CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPADVICE~ALWAYS Q78.2

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPTARGET~Q04.3

6011000124106~MAPADVICE~IF WORTH DISEASE CHOOSE Q78.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~IF PYKNODYSOSTOSIS CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q78.8

6011000124106~MAPRULE~IFA 254130008 | Endosteal hyperostoses (disorder) |

447562003~MAPPRIORITY~1

900000000000497000~MAPTARGET~XUFKc

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~IFA 89647000 | Pyknodysostosis (disorder) |

6011000124106~MAPADVICE~ALWAYS Q78.2 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

6011000124106~MAPADVICE~IF SCLEROSTEOSIS CHOOSE Q78.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPADVICE~IF CRANIOMETADIAPHYSEAL DYSPLASIA CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 17568006 | Sclerosteosis |

6011000124106~MAPRULE~IFA 278833002 | Craniometadiaphyseal dysplasia |

6011000124106~MAPPRIORITY~1

6011000124106~MAPPRIORITY~6

6011000124106~CORRELATIONID~447561005

6011000124106~MAPTARGET~Q78.2

6011000124106~MAPRULE~IFA 254130008 | Endosteal hyperostoses |

6011000124106~MAPRULE~TRUE

6011000124106~MAPRULE~IFA 254132000 | Endosteal hyperostoses with cerebellar hypoplasia (disorder) |

6011000124106~MAPPRIORITY~3

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPADVICE~ALWAYS Q78.2

6011000124106~MAPADVICE~IF LENZ-MAJEWSKI HYPEROSTOSIS SYNDROME CHOOSE Q78.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~2

6011000124106~MAPRULE~IFA 1393001 | Lenz-Majewski hyperostosis syndrome |

6011000124106~MAPADVICE~IF SCLEROSTEOSIS CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 278833002 | Craniometadiaphyseal dysplasia (disorder) |
tui

T047

T019
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/1926006

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