spondylo-epifysaire dysplasie Maroteaux-type (aandoening)
spondylo-epifysaire dysplasie Maroteaux-type
pseudo-Morquio-syndroom type 2
Spondyloepiphyseal dysplasia Maroteaux type
Pseudo-Morquio syndrome type 2
A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map263482
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified