autosomaal dominante hereditaire aandoening
dysostose van os sphenoidale
frontonasale dysplasiesequentie
hereditaire aandoening van bewegingsapparaat
hereditaire ontwikkelingsstoornis
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hypertelorisme Teebi-type (aandoening)
hypertelorisme Teebi-type
craniofrontonasale dysplasie type Teebi
syndroom van Teebi
brachycefalofrontonasale dysplasie
Hypertelorism Teebi type
Teebi syndrome
Craniofrontonasal dysplasia Teebi type
Teebi hypertelorism syndrome
Brachycephalofrontonasal dysplasia
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.
Id724284005
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van os sphenoidale
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 map1519
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