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, generalized joint laxity, short stature syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\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

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Severe myopia, generalized 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, generalized 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, generalized joint laxity, short stature syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\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\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\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\Severe myopia, generalized joint laxity, short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\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\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\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\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized 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, generalized 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, generalized joint laxity, short stature syndrome
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\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\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\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Traumatic or non-traumatic injury\Injury of connective tissue\Severe myopia, generalized 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, generalized joint laxity, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\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\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\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\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\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\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 body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\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 body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of connective tissue\Injury of connective tissue\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\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 malformation syndrome\Multiple system malformation syndrome\Severe myopia, generalized joint laxity, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\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. Date: 30-Apr 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5036039013 Severe myopia, generalized joint laxity, short stature syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5036040010 Severe myopia, generalised joint laxity, short stature syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5036041014 Severe myopia, generalized joint laxity, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Multiple dislocations with dysplasia	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Severe myopia	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Congenital connective tissue disorder	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Injury of connective tissue	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	5
Severe myopia, generalized joint laxity, short stature syndrome	Due to	Spontaneous event	true	Inferred relationship	Existential restriction modifier	7
Severe myopia, generalized joint laxity, short stature syndrome	Finding site	Structure of visual system	true	Inferred relationship	Existential restriction modifier	6
Severe myopia, generalized joint laxity, short stature syndrome	Interprets	Body height	true	Inferred relationship	Existential restriction modifier	4
Severe myopia, generalized joint laxity, short stature syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Severe myopia, generalized joint laxity, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Severe myopia, generalized joint laxity, short stature syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	1
Severe myopia, generalized joint laxity, short stature syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Severe myopia, generalized joint laxity, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Severe myopia, generalized joint laxity, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Severe myopia, generalized joint laxity, short stature syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Existential restriction modifier	2
Severe myopia, generalized joint laxity, short stature syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Severe myopia, generalized joint laxity, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Severe myopia, generalized joint laxity, short stature syndrome	Finding site	Joint structure of multiple body sites	true	Inferred relationship	Existential restriction modifier	3
Severe myopia, generalized joint laxity, short stature syndrome	Associated morphology	Dislocation	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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