Autosomal recessive hereditary disorder	Congenital anomaly of limb	Developmental hereditary disorder	Multiple malformation syndrome with limb defect as major feature
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Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)
	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.
	PHAVER-syndroom
	autosomaal recessief syndroom van pterygium van ledemaat, hartafwijking, werveldefect, ooranomalie en radiaal defect syndroom van Powell-Chandra-Saal

Id	723453002
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Limb structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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