83586000: Ehlers-Danlos-syndroom met trombocytopathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, dysfibronectinaemic

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome, dysfibronectinaemic	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Some
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Occurrence	Congenital	false	Inferred relationship	Some
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Platelet	false	Inferred relationship	Some
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Is a	Ehlers-Danlos syndrome (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Bone structure	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Skin structure	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Finding site	Bone structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, dysfibronectinaemic	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Occurrence	Congenital	true	Inferred relationship	Some	1

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
138627019	Ehlers-Danlos syndrome, dysfibronectinemic	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
138628012	Ehlers-Danlos syndrome, type 10	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
138629016	Ehlers-Danlos syndrome with platelet dysfunction	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
505676016	Ehlers-Danlos syndrome, dysfibronectinaemic	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
825250015	Ehlers-Danlos syndrome, dysfibronectinemic (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9206171000146114	Ehlers-Danlos-syndroom met trombocytopathie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9206181000146111	Ehlers-Danlos-syndroom met trombocytopathie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11740561000146115	Ehlers-Danlos-syndroom type 10	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)