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progeriasyndroom van Nestor-Guillermo (aandoening)
progeriasyndroom van Nestor-Guillermo
Nestor-Guillermo-progeriasyndroom
Nestor Guillermo progeria syndrome
NGPS - Nestor Guillermo progeria syndrome
A rare genetic progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13.
Id773331001
StatusPrimitive
Associated morphologyosteolyse
Finding sitebotstructuur
Occurrencecongenitaal
Finding sitestructuur van huid
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE34.8
RuleTRUE
AdviceALWAYS E34.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified