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syndroom van dysplasie van nier en defect van extremiteit (aandoening)
syndroom van dysplasie van nier en defect van extremiteit
syndroom van renale dysplasie en defect van extremiteit
Ulbright-Hodes-syndroom
syndroom van nierdysplasie en ledemaatdefecten
syndroom van Ulbright-Hodes
Ulbright Hodes syndrome
Renal dysplasia with limb defect syndrome
Renal dysplasia, mesomelia, radiohumeral fusion syndrome
Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
Id719840003
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van nier
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 map3404
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