Autosomal recessive hereditary disorder	Congenital neurological disorder	Developmental hereditary disorder	Inherited optic neuropathy	Multiple malformation syndrome with facial-limb defects as major feature	Pseudopapilledema
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Acrootoocular syndrome (disorder)
	Acro-oto-ocular syndrome
	Pseudopapilledema, blepharophimosis and hand anomaly syndrome Pseudopapilloedema, blepharophimosis and hand anomaly syndrome Acrootoocular syndrome
	A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait.
	acro-oto-oculair syndroom
	syndroom van pseudopapiloedeem, blefarofimose en handanomalieën

Id	720410001
Status	Primitive

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

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

Finding site	Optic disc structure
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified