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multipele epifysaire dysplasie Al-Gazali-type (aandoening)
multipele epifysaire dysplasie Al-Gazali-type
syndroom van meervoudige epifysaire dysplasie, macrocefalie en typisch aangezicht
meervoudige epifysaire dysplasie type Al-Gazali
Multiple epiphyseal dysplasia Al-Gazali type
Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.
Id719688002
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.3
TermChondrodysplasia punctata
SNOMED CT to Orphanet simple map166024
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