Autosomal recessive hereditary disorder	Congenital anomaly of cerebrum	Congenital anomaly of intestinal tract	Congenital anomaly of peripheral nerve	Congenital degeneration of nervous system	Congenital malformation of autonomic nervous system	Developmental delay	Developmental hereditary disorder	Familial visceral neuropathy	Multiple malformation syndrome with facial defects as major feature
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Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)
	Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported.

Id	719833004
Status	Primitive

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

Associated morphology	Degenerative abnormality
Finding site	Structure of Auerbach's plexus
Occurrence	Congenital
Pathological process	Pathological developmental process

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

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to ICD-10 extended map

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