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pseudoleprechaunismesyndroom Patterson-type (aandoening)
pseudoleprechaunismesyndroom Patterson-type
Patterson-pseudoleprechaunisme
Patterson-syndroom
syndroom van Patterson
syndroom van Patterson-David
Pseudoleprechaunism syndrome Patterson type
Patterson pseudoleprechaunism syndrome
Patterson syndrome
A rare genetic adrenal disorder with characteristics of congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.
Id771262009
StatusPrimitive
Has interpretationverhoogd
Interpretshormoonproductie
Associated morphologyhyperpigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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