loading...| Preferred Name |
AGel amyloidosis |
|
| Synonyms |
Familial amyloid polyneuropathy type IV Familial amyloidosis Finnish type Gelsolin amyloidosis Hereditary amyloidosis Finnish type Lattice corneal dystrophy type II Hereditary gelsolin amyloidosis (disorder) Hereditary gelsolin amyloidosis |
|
| Definitions |
A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN). |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/783160006 |
|
| Active |
1 |
|
| altLabel |
Familial amyloid polyneuropathy type IV Familial amyloidosis Finnish type Gelsolin amyloidosis Hereditary amyloidosis Finnish type Lattice corneal dystrophy type II Hereditary gelsolin amyloidosis (disorder) Hereditary gelsolin amyloidosis |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
XVA1a |
|
| cui |
C0936273 |
|
| definition |
A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN). |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20190731 |
|
| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/68790008 |
|
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/39937001 http://purl.bioontology.org/ontology/SNOMEDCT/25087005 |
|
| notation |
783160006 |
|
| prefLabel |
AGel amyloidosis |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS E85.2 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~XVA1a 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~ALWAYS E85.1 6011000124106~MAPTARGET~E85.2 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 447562003~MAPTARGET~E85.1 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363235000 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/367601000119103 http://purl.bioontology.org/ontology/SNOMEDCT/77797009 http://purl.bioontology.org/ontology/SNOMEDCT/402719006 |