loading...| Preferred Name |
Autosomal dominant multiple pterygium syndrome |
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| Synonyms |
Autosomal dominant multiple pterygium syndrome (disorder) |
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| Definitions |
A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/771269000 |
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| Active |
1 |
|
| altLabel |
Autosomal dominant multiple pterygium syndrome (disorder) Distal arthrogryposis type 8 |
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| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
XV6zF |
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| cui |
C1867440 |
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| definition |
A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13. |
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| DEFINITION STATUS ID |
900000000000073002 |
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| Effective time |
20190731 |
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| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| Has pathological process | ||
| interprets | ||
| notation |
771269000 |
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| Occurs in | ||
| prefLabel |
Autosomal dominant multiple pterygium syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS Q74.8 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPTARGET~Q79.8 6011000124106~MAPPRIORITY~1 900000000000497000~MAPTARGET~XV6zF 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q74.8 6011000124106~MAPRULE~TRUE 447562003~MAPADVICE~ALWAYS Q79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 900000000000509007~ACCEPTABILITYID~900000000000549004 |
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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/24269006 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 |