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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1172627007
http://purl.bioontology.org/ontology/SNOMEDCT/1172627007
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|---|---|
| Preferred Name | Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
| Definitions |
A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.
A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum.
A rare congenital disorder of glycosylation characterised by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behaviour have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.
A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behaviour have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum.
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| Synonyms |
Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency
Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder)
PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency
Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum. A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum. A rare congenital disorder of glycosylation characterised by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behaviour have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum. A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behaviour have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum. |
|---|---|
| altLabel | Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency
Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder)
PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency
Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency
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| prefLabel | Early-onset epilepsy, intellectual disability, brain anomalies syndrome
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| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
900000000000017005
|
| notation | 1172627007
|
| Effective time | 20210930
|
| Active | 1
|
| interprets | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~G40.909
6011000124106~MAPTARGET~F78.A9
447562003~MAPTARGET~E77.8
6011000124106~MAPADVICE~ALWAYS Q04.9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
900000000000497000~MAPTARGET~XVGns
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPADVICE~ALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS G40.909
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~Q04.9
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XVGns
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| Occurs in | |
| cui | C5567479
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| No notes to display |