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progeroïd syndroom Petty-type (aandoening)
progeroïd syndroom Petty-type
syndroom van Petty-Laxova-Wiedemann
Progeroid syndrome Petty type
Petty Laxova Wiedemann syndrome
Petty syndrome
A rare premature aging syndrome with characteristics of pre and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanelle and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
Id770567006
StatusPrimitive
Finding sitestructuur van huid
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE34.8
TermOverige gespecificeerde endocriene aandoeningen
SNOMED CT to Orphanet simple map2963
SNOMED CT to ICD-10 extended map
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