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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/764697003
http://purl.bioontology.org/ontology/SNOMEDCT/764697003
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|---|---|
| Preferred Name | Verloove Vanhorick Brubakk syndrome |
| Definitions |
A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
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| Synonyms |
Verloove Vanhorick Brubakk syndrome (disorder)
Cleft lip, limb and heart malformation syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. |
|---|---|
| altLabel |
Verloove Vanhorick Brubakk syndrome (disorder)
Cleft lip, limb and heart malformation syndrome
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| prefLabel | Verloove Vanhorick Brubakk syndrome
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| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 764697003
|
| Effective time | 20180731
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| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~Q36.9
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS Q24.9
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XV5TR
6011000124106~MAPTARGET~Q74.9
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q74.9
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS Q36.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~Q24.9
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| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
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| CTV3ID | XV5TR
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| Occurs in | |
| cui | C1859082
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| Has associated morphology |
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