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X-linked lethal multiple pterygium syndrome (disorder)
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.
X-gebonden letaal meervoudig pterygiumsyndroom
X-gebonden LMPS
Id763462004
StatusPrimitive
Associated morphologyCongenital webbing
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyContracture
Finding siteStructure of joint region
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsRange of joint movement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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