syndroom van holoprosencefalie en postaxiale polydactylie (aandoening)
syndroom van holoprosencefalie en postaxiale polydactylie
Holoprosencephaly and postaxial polydactyly syndrome
Pseudotrisomy 13 syndrome
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2166
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified