1217372003: syndroom van hoge myopie, gegeneraliseerde laxiteit van gewrichten en kleine gestalte (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036040010	Severe myopia, generalised joint laxity, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5036041014	Severe myopia, generalized joint laxity, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13594761000146115	syndroom van myopia gravior, laxiteit van alle gewrichten en dwerggroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14837141000146116	syndroom van hoge myopie, gegeneraliseerde laxiteit van gewrichten en kleine gestalte (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14837151000146118	syndroom van hoge myopie, gegeneraliseerde laxiteit van gewrichten en kleine gestalte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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