congenitaal intra-uterien infectieachtig syndroom (aandoening) | | congenitaal intra-uterien infectieachtig syndroom | | syndroom van microcefalie, intracraniële calcificatie en verstandelijke beperking pseudo-TORCH-syndroom bilaterale bandachtige calcificatie met polymicrogyrie syndroom van Baraitser-Brett-Piesowicz syndroom van Baraitser-Reardon BLC-PMG
| | Congenital intrauterine infection-like syndrome | | Microcephaly, intracranial calcification, intellectual disability syndrome Bilateral band-like calcification with polymicrogyria Baraitser Brett Piesowicz syndrome Pseudo-TORCH syndrome
| | Congenital intrauterine infection-like syndrome is characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. |
| Id | 722390006 | 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 | 1229 |
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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