Autosomal recessive hereditary disorder
Bilateral congenital dislocation of hip
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hip pathological dislocation
Injury of face
Injury of left leg
Injury of right leg
Multiple dislocations with dysplasia
Multiple malformation syndrome with facial defects as major feature
Short stature disorder
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Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)
Steel syndrome
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome
A rare genetic bone disease with characteristics of short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32.
Id1197589000
StatusPrimitive
Clinical courseProgressive
Due toSpontaneous event
Associated morphologyDysplasia
Finding siteSkeletal system structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDislocation
Finding siteLeft hip joint structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDislocation
Finding siteRight hip joint structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDislocation
Finding siteJoint structure of multiple body sites
Has interpretationBelow reference range
InterpretsBody height measure
ICD-10 complex map reference set
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified