loading...| Preferred Name |
Oculo-auriculo-vertebral spectrum |
|
| Synonyms |
Oculoauriculovertebral spectrum |
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| Definitions |
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The etiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/1010685005 |
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| Active |
1 |
|
| altLabel |
Oculoauriculovertebral spectrum OAV (oculo-auriculo-vertebral) spectrum Oculo-auriculo-vertebral spectrum (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XVEhs |
|
| cui |
C0265240 |
|
| definition |
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The etiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported. A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The aetiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20210131 |
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| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/25723000 |
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| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/89546000 |
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| Has pathological process | ||
| notation |
1010685005 |
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| Occurs in | ||
| prefLabel |
Oculo-auriculo-vertebral spectrum |
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPTARGET~Q87.0 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~ALWAYS Q76.49 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS Q75.9 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~Q75.9 6011000124106~MAPTARGET~Q76.49 6011000124106~MAPPRIORITY~1 900000000000497000~MAPTARGET~XVEhs 6011000124106~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 447562003~MAPTARGET~Q87.0 900000000000509007~ACCEPTABILITYID~900000000000549004 |
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| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/74877002 http://purl.bioontology.org/ontology/SNOMEDCT/699699005 http://purl.bioontology.org/ontology/SNOMEDCT/128219005 |