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\Myopathy\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Inherited disorder of connective tissue\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Myopathic Ehlers-Danlos syndrome

Status: current, Primitive. Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

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

5144484015 Myopathic Ehlers-Danlos syndrome en Synonym Active Initial character case insensitive SNOMED CT core

5144485019 Ehlers-Danlos myopathy overlap syndrome en Synonym Active Case sensitive SNOMED CT core

5144486018 A rare systemic disease with characteristics of congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5144482016	Myopathic EDS (Ehlers-Danlos syndrome)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5144483014	Myopathic Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5144484015	Myopathic Ehlers-Danlos syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5144485019	Ehlers-Danlos myopathy overlap syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5144486018	A rare systemic disease with characteristics of congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.	en	Definition	Active	Case sensitive	SNOMED CT core