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SNOMED CT
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/725050005
http://purl.bioontology.org/ontology/SNOMEDCT/725050005
|
|---|---|
| Preferred Name | Autosomal dominant osteopetrosis type 2 |
| Definitions |
A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13).
A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13).
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| Synonyms |
Albers Schonberg osteopetrosis
Autosomal dominant osteopetrosis type 2 (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). |
|---|---|
| altLabel |
Albers Schonberg osteopetrosis
Autosomal dominant osteopetrosis type 2 (disorder)
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| prefLabel | Autosomal dominant osteopetrosis type 2
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 725050005
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| Effective time | 20170731
|
| Active | 1
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| Has finding site | |
| Has clinical course | |
| interprets | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~MAPTARGET~Q78.2
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPADVICE~ALWAYS Q78.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XUvSu
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q78.2
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS Q78.2
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUvSu
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| Occurs in | |
| cui | C3179239
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |
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