Autosomal recessive hereditary disorder
Congenital connective tissue disorder
Connective tissue hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of the visual system
Injury of connective tissue
Multiple dislocations with dysplasia
Multiple system malformation syndrome
Musculoskeletal and connective tissue disorder
Severe myopia
Short stature disorder
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Severe myopia, generalized joint laxity, short stature syndrome (disorder)
Severe myopia, generalized joint laxity, short stature syndrome
A rare developmental defect with connective tissue involvement and characteristics of joint hyperextensibility and multiple dislocations of large joints, severe myopia and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus and progressive hearing loss.
Id1217372003
StatusPrimitive
Clinical courseProgressive
Due toSpontaneous event
Finding siteStructure of visual system
Has interpretationBelow reference range
InterpretsBody height
Associated morphologyDysplasia
Finding siteSkeletal system structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteConnective tissue structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDislocation
Finding siteJoint structure of multiple body sites
ICD-10 complex map reference set
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified