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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1217381009
http://purl.bioontology.org/ontology/SNOMEDCT/1217381009
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|---|---|
| Preferred Name | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
| Definitions |
A rare genetic syndromic intellectual disability with characteristics of global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.
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| Synonyms |
GPAA1-related biosynthesis defect
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (disorder)
Glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic syndromic intellectual disability with characteristics of global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. |
|---|---|
| altLabel | GPAA1-related biosynthesis defect
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (disorder)
Glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect
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| prefLabel | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 1217381009
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| Effective time | 20220430
|
| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 900000000000497000~MAPTARGET~XVIBp
6011000124106~MAPTARGET~F88
6011000124106~MAPTARGET~R56.9
6011000124106~MAPTARGET~Q15.9
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~P90
447562003~MAPADVICE~ALWAYS F79.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~G31.89
6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P90 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS M85.80
447562003~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q15.9
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS F88
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPTARGET~F79.9
447562003~MAPCATEGORYID~447637006
6011000124106~MAPGROUP~5
6011000124106~MAPADVICE~ALWAYS G31.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPGROUP~4
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~M85.80
6011000124106~MAPADVICE~ALWAYS R56.9
6011000124106~MAPRULE~IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
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| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
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| CTV3ID | XVIBp
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| Occurs in | |
| cui | C4540520
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| Has associated morphology |
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