Autosomal recessive hereditary disorder	Congenital anomaly of limb	Developmental hereditary disorder	Dysostosis	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with limb defect as major feature
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Fuhrmann syndrome (disorder)
	Fuhrmann syndrome
	Fuhrmann Rieger de Sousa syndrome
	This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25).
	Fuhrmann-syndroom
	syndroom van Fuhrmann syndroom van Fuhrmann-Rieger-de Sousa

Id	721296004
Status	Primitive

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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	Q74.8
Rule	TRUE
Advice	ALWAYS Q74.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified