Autosomal recessive hereditary disorder
Autosomal recessive hereditary disorder
Congenital anomaly of cerebrum
Congenital anomaly of intestinal tract
Congenital anomaly of peripheral nerve
Congenital degeneration of nervous system
Congenital degeneration of nervous system
Congenital malformation of autonomic nervous system
Developmental delay
Developmental delay
Developmental hereditary disorder
Familial visceral neuropathy
Familial visceral neuropathy
Multiple malformation syndrome with facial defects as major feature
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
This syndrome has characteristics of facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome.
syndroom van viscerale neuropathie, hersenanomalie, faciale dysmorfie en ontwikkelingsachterstand
Id719833004
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDegenerative abnormality
Finding siteStructure of Auerbach's plexus
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteCerebrum
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteStructure of peripheral part of autonomic nervous system
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified