spondylo-epimetafysaire dysplasie Shohat-type (aandoening)
spondylo-epimetafysaire dysplasie Shohat-type
Spondyloepimetaphyseal dysplasia Shohat type
Disease with characteristics of severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy. The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93352
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified