loading...| Preferred Name |
Holt-Oram syndrome |
|
| Synonyms |
Heart-hand syndrome type 1 |
|
| Definitions |
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/19092004 |
|
| Active |
1 |
|
| altLabel |
Heart-hand syndrome type 1 Holt Oram syndrome Holt-Oram syndrome (disorder) Atriodigital dysplasia type 1 |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
XU8oA |
|
| cui |
C0265264 |
|
| definition |
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| INACTIVATION INDICATOR |
900000000000494007 |
|
| notation |
19092004 |
|
| Occurs in | ||
| prefLabel |
Holt-Oram syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 447562003~MAPTARGET~Q87.2 900000000000497000~MAPTARGET~XU8oA 900000000000490003~VALUEID~900000000000494007 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~Q87.2 447562003~MAPGROUP~1 447562003~MAPADVICE~ALWAYS Q87.2 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS Q87.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/88631000119105 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/109420003 http://purl.bioontology.org/ontology/SNOMEDCT/13213009 http://purl.bioontology.org/ontology/SNOMEDCT/298756009 http://purl.bioontology.org/ontology/SNOMEDCT/698247007 http://purl.bioontology.org/ontology/SNOMEDCT/363005004 http://purl.bioontology.org/ontology/SNOMEDCT/363212003 |