autosomaal recessieve hereditaire aandoening	congenitale afwijking van extremiteit	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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autosomaal recessief syndroom van pterygium van ledemaat, hartafwijking, werveldefect, ooranomalie en radiaal defect (aandoening)
	PHAVER-syndroom
	syndroom van Powell-Chandra-Saal autosomaal recessief syndroom van pterygium van ledemaat, hartafwijking, werveldefect, ooranomalie en radiaal defect
	PHAVER syndrome
	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome Powell Chandra Saal syndrome
	A very rare syndrome with the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. It has been described in two siblings. One of the siblings also had a myelomeningocele. The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance.

Id	723453002
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van extremiteit
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

2876

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