1255116001: Myopathic Ehlers-Danlos syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Contracture of joint\Contracture of multiple joints\Myopathic Ehlers-Danlos syndrome

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Myopathic Ehlers-Danlos syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Myopathic Ehlers-Danlos syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Myopathic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5144482016 Myopathic EDS (Ehlers-Danlos syndrome) en Synonym Active Only initial character case insensitive SNOMED CT core module

5144483014 Myopathic Ehlers-Danlos syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

5144484015 Myopathic Ehlers-Danlos syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

5144485019 Ehlers-Danlos myopathy overlap syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myopathic Ehlers-Danlos syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Myopathic Ehlers-Danlos syndrome	Is a	Contracture of multiple joints	true	Inferred relationship	Existential restriction modifier
Myopathic Ehlers-Danlos syndrome	Is a	Ehlers-Danlos syndrome	true	Inferred relationship	Existential restriction modifier
Myopathic Ehlers-Danlos syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	6
Myopathic Ehlers-Danlos syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	6
Myopathic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Myopathic Ehlers-Danlos syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Myopathic Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Myopathic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Myopathic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Myopathic Ehlers-Danlos syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Myopathic Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Myopathic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Myopathic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Myopathic Ehlers-Danlos syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Existential restriction modifier	3
Myopathic Ehlers-Danlos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Myopathic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Myopathic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Myopathic Ehlers-Danlos syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	5
Myopathic Ehlers-Danlos syndrome	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	4
Myopathic Ehlers-Danlos syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	4
Myopathic Ehlers-Danlos syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Myopathic Ehlers-Danlos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Myopathic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5

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
5144482016	Myopathic EDS (Ehlers-Danlos syndrome)	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5144483014	Myopathic Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5144484015	Myopathic Ehlers-Danlos syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5144485019	Ehlers-Danlos myopathy overlap syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module