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autosomaal recessief Dyggve-Melchior-Clausen-syndroom (aandoening)
autosomaal recessief Dyggve-Melchior-Clausen-syndroom
Dyggve-Melchior-Clausen-dysplasie
DMC-syndroom
syndroom van Dyggve-Melchior-Clausen
ziekte van Dyggve-Melchior-Clausen
syndroom van Dyggve-Melchior-Clausen
Zeer zeldzaam syndroom met als kenmerken onder meer dwerggroei en een verstandelijke beperking; de ziekte wordt veroorzaakt door mutaties in het gen DYM (18q21.1).
Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen dysplasia
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and mental retardation of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.
Id82699004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8
CorrelationSNOMED CT source code to target map code correlation not specified