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spondylo-epimetafysaire dysplasie 3'-fosfo-adenosine-5'-fosfosulfaat-synthase-2-type (aandoening)
spondylo-epimetafysaire dysplasie 3'-fosfo-adenosine-5'-fosfosulfaat-synthase-2-type
SEMD PAPSS2-type
spondylo-epimetafysaire dysplasie Pakistani-type
Spondyloepimetaphyseal dysplasia PAPSS2 type
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type
Spondyloepimetaphyseal dysplasia PAPSS2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type
Spondyloepimetaphyseal dysplasia Pakistani type
Disorder with characteristics of short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. The syndrome has been described a large eight-generation consanguineous Pakistani family. Caused by mutations in the PAPSS2 gene (10q22-q24). Inherited in an autosomal recessive manner.
Id719172003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified