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autosomaal recessief syndroom van distale osteolyse (aandoening)
autosomaal recessief syndroom van distale osteolyse
syndroom van Petit-Fryns
syndroom van distale osteolyse, kleine gestalte en verstandelijke handicap
syndroom van distale osteolyse, kleine gestalte en mentale retardatie
syndroom van distale osteolyse, kleine gestalte en verstandelijke beperking
Autosomal recessive distal osteolysis syndrome
Distal osteolysis, short stature and intellectual disability
Petit Fryns syndrome
Rare disorder with features of severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.
Id715487005
StatusPrimitive
Associated morphologyosteolyse
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified