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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1260097007
http://purl.bioontology.org/ontology/SNOMEDCT/1260097007
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|---|---|
| Preferred Name | PUM1-associated developmental disability, ataxia, seizure syndrome |
| Definitions |
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities.
A rare genetic syndromic intellectual disability characterised by developmental delay, intellectual disability, ataxia, and more variably seizures and short stature. Behavioural abnormalities may also be observed, along with variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum or posterior fossa abnormalities.
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and more variably seizures and short stature. Behavioral abnormalities may also be observed, along with variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum or posterior fossa abnormalities.
A rare genetic syndromic intellectual disability characterised by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioural abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities.
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| Synonyms |
SCA47 - spinocerebellar ataxia type 47
PADDAS syndrome
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. A rare genetic syndromic intellectual disability characterised by developmental delay, intellectual disability, ataxia, and more variably seizures and short stature. Behavioural abnormalities may also be observed, along with variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum or posterior fossa abnormalities. A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and more variably seizures and short stature. Behavioral abnormalities may also be observed, along with variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum or posterior fossa abnormalities. A rare genetic syndromic intellectual disability characterised by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioural abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. |
|---|---|
| altLabel | SCA47 - spinocerebellar ataxia type 47
PADDAS syndrome
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)
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| prefLabel | PUM1-associated developmental disability, ataxia, seizure syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000017005
|
| notation | 1260097007
|
| Effective time | 20221231
|
| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 6011000124106~MAPTARGET~G40.89
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XVJul
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS G40.89
447562003~MAPADVICE~ALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~G11.9
6011000124106~MAPADVICE~ALWAYS G11.9
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~G11.8
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
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
|
| tui | T047
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| CTV3ID | XVJul
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| cui | C4693672
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| Has associated morphology |
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| No notes to display |