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syndroom van tetra-amelie en multipele malformaties (aandoening)
syndroom van tetra-amelie en multipele malformaties
focomelie van Zimmer
Tetraamelia with multiple malformation syndrome
Tetra-amelia with multiple malformation syndrome
Zimmer phocomelia
An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent.
Id716249009
StatusPrimitive
Associated morphologyagenesie
Finding sitegehele rechter bovenste extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegehele linker onderste extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegehele linker bovenste extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegehele rechter onderste extremiteit
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 map3301
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified