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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Severe myopia, generalized joint laxity, short stature syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Severe myopia, generalized joint laxity, short stature syndrome
• \Disorder of vision\Disorder of refraction AND/OR accommodation\trouble de la réfraction\myopie\Severe myopia\Severe myopia, generalized joint laxity, short stature syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\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\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\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\arthropathie chronique\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\polyarthropathie\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\arthropathie chronique\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\lésion du système musculosquelettique (trouble)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\arthropathie chronique\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\polyarthropathie\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\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\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\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\arthropathie chronique\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\polyarthropathie\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\lésion traumatique ou non traumatique (trouble)\Nontraumatic injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\lésion traumatique ou non traumatique (trouble)\Injury of connective tissue (disorder)\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\lésion traumatique ou non traumatique (trouble)\lésion du système musculosquelettique (trouble)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of vision\Disorder of refraction AND/OR accommodation\trouble de la réfraction\myopie\Severe myopia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\arthropathie chronique\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\lésion du système musculosquelettique (trouble)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\arthropathie chronique\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\polyarthropathie\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection du tissu conjonctif\Injury of connective tissue (disorder)\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\arthropathie chronique\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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
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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