||||
X-gebonden letaal meervoudig pterygiumsyndroom (aandoening)
X-gebonden letaal meervoudig pterygiumsyndroom
X-gebonden LMPS
X-linked lethal multiple pterygium syndrome
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by 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 2nd or 3rd trimester) with an X-linked pattern of inheritance.
Id763462004
StatusPrimitive
Associated morphologycongenitale webbing
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ79.8
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
SNOMED CT to Orphanet simple map79447
SNOMED CT to ICD-10 extended map
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