| syndroom van hypotonie, spraakstoornis en ernstige verstandelijke beperking (aandoening) | | syndroom van hypotonie, spraakstoornis en ernstige verstandelijke beperking | | syndroom van hypotonie, spraakstoornis en verstandelijke handicap
IHPRF-syndroom
syndroom van hypotonie, spraakstoornis en ernstige cognitieve achterstand
syndroom van hypotonie, spraakstoornis en ernstige mentale retardatie
| | Hypotonia, speech impairment, severe cognitive delay syndrome | | IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome
| | A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
| | Id | 763722004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 371364 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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