malformatiesyndroom met betrokkenheid van meerdere systemen	pili torti
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syndroom van pili torti met ontwikkelingsachterstand en neurologische afwijking (aandoening)
	syndroom van pili torti met ontwikkelingsachterstand en neurologische afwijking
	Pili torti with developmental delay and neurological abnormality syndrome
	This syndrome has characteristics of growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.

Id	716194005
Status	Primitive

Associated morphology	afgevlakte deformiteit
Finding site	structuur van scapus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	tortuositas
Finding site	structuur van pilus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

SNOMED CT to Orphanet simple map

2891

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified