loading...| Preferred Name |
Diaphyseal dysplasia |
|
| Synonyms |
Engelman's disease |
|
| Definitions |
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/34643004 |
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| Active |
1 |
|
| altLabel |
Engelman's disease Camurati-Engelmann syndrome Diaphyseal dysplasia (disorder) Diaphyseal sclerosis Osteopathia hyperostotica multiplex infantis Progressive diaphyseal dysplasia Engelmann's disease Engelmann syndrome |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
PG58. |
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| cui |
C0011989 |
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| definition |
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20210930 |
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| Has associated morphology | ||
| Has clinical course | ||
| Has finding site | ||
| Has interpretation | ||
| Has pathological process | ||
| interprets | ||
| notation |
34643004 |
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| Occurs in | ||
| prefLabel |
Diaphyseal dysplasia |
|
| Subset member |
6011000124106~MAPRULE~IFA 389214003 | Diaphyseal dysplasia with anemia | 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~IF DIAPHYSEAL DYSPLASIA WITH ANEMIA CHOOSE P61.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~ALWAYS Q78.3 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 447562003~MAPADVICE~ALWAYS Q78.3 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~P61.4 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 900000000000497000~MAPTARGET~PG58. 6011000124106~MAPCATEGORYID~447639009 447562003~MAPTARGET~Q78.3 6011000124106~MAPTARGET~Q78.3 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPRULE~IFA 389214003 | Diaphyseal dysplasia with anemia (disorder) | |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/8447006 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/254120004 |