Autosomal recessive hereditary disorder	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
	Intellectual disability, epilepsy, bulbous nose syndrome
	Hernandez Aguirre Negrete syndrome
	This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families.
	syndroom van verstandelijke beperking, epilepsie en knolvormige neus
	syndroom van verstandelijke handicap, epilepsie en knolvormige neus syndroom van mentale retardatie, epilepsie en knolvormige neus syndroom van Hernández-Aguirre-Negrete

Id	721146009
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
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