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syndroom van lymfoedeem en hypoparathyreoïdie (aandoening)
syndroom van lymfoedeem en hypoparathyreoïdie
syndroom van lymfoedeem en hypoparathyroïdie
syndroom van Dahlberg
syndroom van Dahlberg-Borer-Newcomer
Lymphedema hypoparathyroidism syndrome
Dahlberg Borer Newcomer syndrome
Dahlberg syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993.
Id721083007
StatusPrimitive
Associated morphologylymfoedeem
Finding sitestructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interpretshormoonsecretie
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.4
TermEctodermale dysplasie (anhidrotisch)
SNOMED CT to Orphanet simple map1563
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