loading...| Preferred Name | Atelosteogenesis type 1 | |
| Synonyms |
Atelosteogenesis type I Atelosteogenesis type 1 (disorder) Giant cell chondrodysplasia |
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| Definitions |
A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/725141006 |
|
| Active |
1 |
|
| altLabel |
Atelosteogenesis type I Atelosteogenesis type 1 (disorder) Giant cell chondrodysplasia |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
|
| CTV3ID |
XUvWb |
|
| cui |
C0265283 |
|
| definition |
A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Due to | ||
| Effective time |
20170731 |
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| Has associated morphology | ||
| Has clinical course | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
725141006 |
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| Occurs in | ||
| prefLabel |
Atelosteogenesis type 1 |
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| Subset member |
447562003~MAPRULE~TRUE 900000000000497000~MAPTARGET~XUvWb 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~MAPTARGET~Q78.8 6011000124106~MAPADVICE~ALWAYS Q78.8 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q78.8 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 447562003~MAPADVICE~ALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION |
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| tui |
T019 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/8447006 |