Autosomal dominant hereditary disorder	Congenital aniridia	Congenital anomaly of patella	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Hereditary disorder of the visual system	Multiple malformation syndrome with limb defect as major feature
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Aniridia and absent patella syndrome (disorder)
	Aniridia and absent patella syndrome
	A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
	syndroom van aniridie en afwezige patella

Id	720467005
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Bone structure of patella
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Absence
Finding site	Iris 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