720860004: Ehlers-Danlos syndrome musculocontractural type (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type

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

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type

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

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type

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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ehlers-Danlos syndrome musculocontractural type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\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\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\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\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322322014 Ehlers-Danlos syndrome musculocontractural type (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3322323016 Ehlers-Danlos syndrome musculocontractural type en Synonym Active Case sensitive SNOMED CT core

3322324010 Ehlers-Danlos syndrome Kosho type en Synonym Active Case sensitive SNOMED CT core

3322325011 Adducted thumbs, arthrogryposis syndrome, Dundar type en Synonym Active Initial character case insensitive SNOMED CT core

3322326012 Ehlers-Danlos syndrome arthrogryposic type en Synonym Active Case sensitive SNOMED CT core

3322327015 A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations. en Definition Active Case sensitive SNOMED CT core

3322328013 A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, haemorrhagic diathesis and multisystem fragility-related manifestations. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome musculocontractural type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome musculocontractural type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome musculocontractural type	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome musculocontractural type	Is a	Congenital anomaly of bone and joint	false	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type	Finding site	Bone structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome musculocontractural type	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome musculocontractural type	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome musculocontractural type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome musculocontractural type	Is a	Inherited arthrogryposis	false	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome musculocontractural type	Finding site	Face structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Contracture	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome musculocontractural type	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome musculocontractural type	Finding site	Joint structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome musculocontractural type	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Is a	Congenital skeletal dysplasia	false	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Finding site	Connective tissue structure	true	Inferred relationship	Some	6
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome musculocontractural type	Interprets	Range of joint movement	true	Inferred relationship	Some	5
Ehlers-Danlos syndrome musculocontractural type	Has interpretation	Decreased	true	Inferred relationship	Some	5
Ehlers-Danlos syndrome musculocontractural type	Finding site	Structure of joint region	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	6
Ehlers-Danlos syndrome musculocontractural type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	6
Ehlers-Danlos syndrome musculocontractural type	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Is a	Ehlers-Danlos syndrome	true	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type	Occurrence	Congenital	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type	Finding site	Bone structure	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Ehlers-Danlos syndrome musculocontractural type	Occurrence	Congenital	false	Inferred relationship	Some	5
Ehlers-Danlos syndrome musculocontractural type	Occurrence	Congenital	true	Inferred relationship	Some	6
Ehlers-Danlos syndrome musculocontractural type	Occurrence	Congenital	false	Inferred relationship	Some	7
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type	Finding site	Face structure	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Contracture	false	Inferred relationship	Some	6
Ehlers-Danlos syndrome musculocontractural type	Finding site	Joint structure	false	Inferred relationship	Some	6
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	7
Ehlers-Danlos syndrome musculocontractural type	Finding site	Skin structure	false	Inferred relationship	Some	7
Ehlers-Danlos syndrome musculocontractural type	Associated morphology	Contracture	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type	Finding site	Bone structure	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322322014	Ehlers-Danlos syndrome musculocontractural type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3322323016	Ehlers-Danlos syndrome musculocontractural type	en	Synonym	Active	Case sensitive	SNOMED CT core
3322324010	Ehlers-Danlos syndrome Kosho type	en	Synonym	Active	Case sensitive	SNOMED CT core
3322325011	Adducted thumbs, arthrogryposis syndrome, Dundar type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322326012	Ehlers-Danlos syndrome arthrogryposic type	en	Synonym	Active	Case sensitive	SNOMED CT core
3322327015	A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations.	en	Definition	Active	Case sensitive	SNOMED CT core
3322328013	A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, haemorrhagic diathesis and multisystem fragility-related manifestations.	en	Definition	Active	Case sensitive	SNOMED CT core