Absence of lower limb	Congenital anomaly of lower limb	Congenital cataract	Multiple malformation syndrome with limb defect as major feature
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Absence deformity of leg and congenital cataract syndrome (disorder)
	Absence deformity of leg and congenital cataract syndrome
	A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
	syndroom van afwezigheid van been en congenitaal cataract
	syndroom van afwezigheid van onderste extremiteit en aangeboren staar syndroom van afwezigheid van been en aangeboren staar

Id	716099003
Status	Primitive

Associated morphology	Absence
Finding site	Lower limb structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Opacity
Finding site	Lens clear
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q72.8
Rule	TRUE
Advice	ALWAYS Q72.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q12.0
Rule	TRUE
Advice	ALWAYS Q12.0
Correlation	SNOMED CT source code to target map code correlation not specified