| syndroom van ontwikkelingsachterstand, ataxie en insulten door 'Pumilio RNA binding family member 1' (aandoening) | | PUM-geassocieerd syndroom van ontwikkelingsachterstand, ataxie en insulten | | PADDAS-syndroom
syndroom van ontwikkelingsachterstand, ataxie en insulten door 'Pumilio RNA binding family member 1'
| | PUM1-associated developmental disability, ataxia, seizure syndrome | | PADDAS syndrome
SCA47 - spinocerebellar ataxia type 47
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
| | 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. |
| | Id | 1260097007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 589515 |
| SNOMED CT to ICD-10 extended map | | Target | G11.8 | | Rule | TRUE | | Advice | ALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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