loading...| Preferred Name | Periventricular nodular heterotopia | |
| Synonyms |
PVNH - periventricular nodular heterotopia Periventricular nodular heterotopia (disorder) |
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| Definitions |
A brain malformation due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical periventricular nodular heterotopia is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/816068000 |
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| Active |
1 |
|
| altLabel |
PVNH - periventricular nodular heterotopia Periventricular nodular heterotopia (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
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| CTV3ID |
XVBj1 |
|
| cui |
C1868720 |
|
| definition |
A brain malformation due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical periventricular nodular heterotopia is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20200131 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
816068000 |
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| Occurs in | ||
| prefLabel |
Periventricular nodular heterotopia |
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000497000~MAPTARGET~XVBj1 6011000124106~MAPTARGET~Q04.8 6011000124106~MAPADVICE~ALWAYS Q04.8 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 447562003~MAPTARGET~Q04.8 6011000124106~MAPRULE~TRUE 447562003~MAPADVICE~ALWAYS Q04.8 | 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/253151003 |