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syndroom van verstandelijke beperking, epilepsie en knolvormige neus (aandoening)
syndroom van verstandelijke beperking, epilepsie en knolvormige neus
syndroom van Hernández-Aguirre-Negrete
syndroom van verstandelijke handicap, epilepsie en knolvormige neus
syndroom van mentale retardatie, epilepsie en knolvormige neus
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.
Id721146009
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map2139
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified