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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\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\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Connective tissue hereditary disorder\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\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\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Connective tissue hereditary disorder\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 malformation\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 malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome musculocontractural type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3322322014 Ehlers-Danlos syndrome musculocontractural type (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3322323016 Ehlers-Danlos syndrome musculocontractural type en Synonym Active Entire term case sensitive SNOMED CT core module

3322324010 Ehlers-Danlos syndrome Kosho type en Synonym Active Entire term case sensitive SNOMED CT core module

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

3322326012 Ehlers-Danlos syndrome arthrogryposic type en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3322322014	Ehlers-Danlos syndrome musculocontractural type (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3322323016	Ehlers-Danlos syndrome musculocontractural type	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322324010	Ehlers-Danlos syndrome Kosho type	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322325011	Adducted thumbs, arthrogryposis syndrome, Dundar type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3322326012	Ehlers-Danlos syndrome arthrogryposic type	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module