|letale botdysplasie type Holmgren (aandoening)|
letale botdysplasie type Holmgren
Bone dysplasia lethal Holmgren type
Autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type
A lethal bone dysplasia with characteristics of low birth weight, rhizomelic dwarfism, bent femora and short chest producing asphyxia. The disease has been described in three siblings from healthy, non-consanguineous parents of Finnish origin and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. There has been no further description of this disease in the literature since 1988.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS Q77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|