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SNOMED CT
Last uploaded:
August 28, 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) |
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ID |
http://purl.bioontology.org/ontology/SNOMEDCT/254043005 |
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Active |
1
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altLabel |
Defects of the tubular (and flat) bones and/or axial skeleton (disorder)
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CASE SIGNIFICANCE ID |
900000000000448009
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CTV3ID |
X789R
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cui |
C0432187
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DEFINITION STATUS ID |
900000000000074008
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Effective time |
20020131
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Has associated morphology | ||
Has finding site | ||
Has pathological process | ||
notation |
254043005
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Occurs in | ||
prefLabel |
Defects of the tubular (and flat) bones and/or axial skeleton
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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
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tui |
T019
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Type ID |
900000000000003001 900000000000013009
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subClassOf |
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Mapping To | Ontology | Source |
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http://purl.bioontology.org/ontology/SCTSPA/254043005 | SCTSPA | CUI |
http://purl.bioontology.org/ontology/RCD/X789R | RCD | CUI |
http://purl.bioontology.org/ontology/RCD/X789R | RCD | LOOM |