syndroom van doofheid, epifysaire dysplasie en kleine gestalte (aandoening)
syndroom van doofheid, epifysaire dysplasie en kleine gestalte
syndroom van Chitty-Hall-Baraitser
Chitty Hall Baraitser syndrome
Deafness with epiphyseal dysplasia and short stature syndrome
This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait.
Has interpretationgestoord
Associated morphologydysplasie
Finding sitestructuur van epifyse van femur
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map3218
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified