autosomaal recessieve hereditaire aandoening
multipele epifysaire dysplasie
osteopenie
|||
Eiken-syndroom (aandoening)
Eiken-syndroom
syndroom van Eiken
Eiken syndrome
A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this syndrome. Transmission is autosomal recessive.
Id720863002
StatusPrimitive
Associated morphologygedemineraliseerde structuur
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Interpretsmeetbare observatie betreffende lengte en/of groei
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.3
TermChondrodysplasia punctata
TargetM85.89
TermOverige gespecificeerde afwijkingen in dichtheid en structuur van bot van lokalisatie niet gespecificeerd
SNOMED CT to Orphanet simple map79106
SNOMED CT to ICD-10 extended map
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetM85.89
RuleTRUE
AdviceALWAYS M85.89
CorrelationSNOMED CT source code to target map code correlation not specified