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syndroom van palatoschisis, Potter-sequentie, congenitale hartafwijking, mesoaxiale polydactylie en multipele malformaties (aandoening)
syndroom van palatoschisis, Potter-sequentie, congenitale hartafwijking, mesoaxiale polydactylie en multipele malformaties
syndroom van Holzgreve
Holzgreve-syndroom
Holzgreve syndrome
Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome
Holzgreve Wagner Rehder syndrome
An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.
Id783159001
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van labium oris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegehele nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van palatum
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 map2167
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