loading...| Preferred Name |
Schwartz-Jampel syndrome |
|
| Synonyms |
Burton syndrome |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/29145002 |
|
| Active |
1 |
|
| altLabel |
Burton syndrome Catel Hempel syndrome Chondrodystrophic myotonia Aberfeld syndrome Myotonia chondrodystrophica Burton skeletal dysplasia Schwartz-Jampel syndrome (disorder) Osteochondromuscular dystrophy |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
PG421 |
|
| cui |
C0036391 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/3058005 |
|
| Has pathological process | ||
| notation |
29145002 |
|
| Occurs in | ||
| prefLabel |
Schwartz-Jampel syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 447562003~MAPADVICE~ALWAYS Q78.8 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~MAPTARGET~Q78.8 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~G71.13 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS G71.13 900000000000497000~MAPTARGET~PG421 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/363235000 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/82354003 http://purl.bioontology.org/ontology/SNOMEDCT/257277002 http://purl.bioontology.org/ontology/SNOMEDCT/278713008 |