Autosomal recessive hereditary disorder
Chondrodysplasia
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
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Bone dysplasia lethal Holmgren type (disorder)
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.
letale botdysplasie type Holmgren
Id732249002
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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