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syndroom van trigonocefalie met bifide neus en acrale anomalieën (aandoening)
syndroom van trigonocefalie met bifide neus en acrale anomalieën
Trigonocephaly with bifid nose and acral anomaly syndrome
This syndrome has characteristics of trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. It has been described in a brother and his sister born to consanguineous parents.
Id719948009
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van neus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwijkende vorm
Finding sitestructuur van os frontale
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyPremature fusion
Finding sitestructuur van sutura frontalis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 map3368
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