letale botdysplasie type Holmgren (aandoening) DEPRECATED
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
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2026-07-01)
REPLACED BY association reference set254099008 | Desbuquois-syndroom | (2026-07-01)
SNOMED CT to Orphanet simple map
DHD Diagnosis thesaurus reference set