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X-gebonden letaal meervoudig pterygiumsyndroom (aandoening)
X-gebonden letaal meervoudig pterygiumsyndroom
X-gebonden LMPS
X-linked lethal multiple pterygium syndrome
A rare genetic developmental defect during embryogenesis. The disease has the typical lethal multiple pterygium syndrome presentation comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the second or third trimester with an X-linked pattern of inheritance.
Id763462004
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Associated morphologycongenitale webbing
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ79.8
RuleTRUE
AdviceALWAYS Q79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified