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letale botdysplasie type Holmgren (aandoening)
letale botdysplasie type Holmgren
Bone dysplasia lethal Holmgren type
Autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type
A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.
Id732249002
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1842
SNOMED CT to ICD-10 extended map
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified