loading...| Preferred Name |
Osteogenesis imperfecta type IIC |
|
| Synonyms |
Lethal osteogenesis imperfecta with thin long bones and thin and beaded ribs Osteogenesis imperfecta type IIC (disorder) |
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| Definitions |
Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/1197018005 |
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| Active |
1 |
|
| altLabel |
Lethal osteogenesis imperfecta with thin long bones and thin and beaded ribs Osteogenesis imperfecta type IIC (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
|
| CTV3ID |
XVHbM |
|
| cui |
C4015949 |
|
| definition |
Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. |
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| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20220228 |
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| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| Has pathological process | ||
| interprets | ||
| notation |
1197018005 |
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| Occurs in | ||
| prefLabel |
Osteogenesis imperfecta type IIC |
|
| Subset member |
447562003~MAPADVICE~ALWAYS Q78.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 447562003~MAPRULE~TRUE 447562003~MAPTARGET~Q78.0 6011000124106~MAPADVICE~ALWAYS Q78.0 6011000124106~MAPGROUP~1 900000000000497000~MAPTARGET~XVHbM 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~Q78.0 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T033 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/SCTSPA/1197018005 | SCTSPA | CUI | |
| http://purl.bioontology.org/ontology/OMIM/120150 | OMIM | CUI |