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syndroom van mandibulaire hypoplasie, doofheid en progeroïde kenmerken (aandoening)
syndroom van mandibulaire hypoplasie, doofheid en progeroïde kenmerken
MDP-syndroom
Mandibular hypoplasia, deafness, progeroid syndrome
Mandibular hypoplasia, hearing loss, progeroid syndrome
MDP (mandibular hypoplasia, deafness, progeroid) syndrome
A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13.
Id773406003
StatusPrimitive
Finding sitestructuur van huid
Occurrencecongenitaal
Associated morphologyhypoplasie
Finding sitebotstructuur van mandibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
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