autosomaal dominante hereditaire aandoening
hereditaire ontwikkelingsstoornis
malformatiesyndroom met betrokkenheid van meerdere systemen
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syndroom van postaxiale polydactylie, anterieure hypofyseafwijkingen en faciale dysmorfie (aandoening)
syndroom van postaxiale polydactylie, anterieure hypofyseafwijkingen en faciale dysmorfie
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
A rare genetic developmental defect during embryogenesis with primary characteristics of congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
Id763866005
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map420584
SNOMED CT to ICD-10 extended map
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