1217372003: Severe myopia, generalized joint laxity, short stature syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Severe myopia, generalised joint laxity, short stature syndrome
• \Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\Severe myopia, generalised joint laxity, short stature syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of joint region\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Traumatic or non-traumatic injury\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Traumatic or non-traumatic injury\Injury of connective tissue\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of connective tissue\Injury of connective tissue\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Congenital disease\Congenital connective tissue disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalised joint laxity, short stature syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Severe myopia, generalised joint laxity, short stature syndrome

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5036039013	Severe myopia, generalized joint laxity, short stature syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5036040010	Severe myopia, generalised joint laxity, short stature syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5036041014	Severe myopia, generalized joint laxity, short stature syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5036042019	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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