398114001: Ehlers-Danlos-syndroom (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)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)
\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)
\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)
\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)
\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)

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome (disorder)	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Skin lesion	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Metabolic bone disease	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Metabolic disease of collagen	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Is a	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ehlers-Danlos-syndroom zonder hydroxylysinedeficiëntie van oculair type	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Vascular Ehlers-Danlos syndrome	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos-syndroom type 2	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, hydroxylysine-deficient	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Hypermobile Ehlers-Danlos syndrome (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos-syndroom van procollageen-proteïnase-resistente type (aandoening)	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Periodontal Ehlers-Danlos syndrome (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Arthrochalasia Ehlers-Danlos syndrome (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Cutis laxa, x-linked	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
X-linked Ehlers-Danlos syndrome	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Familial articular hypermobility syndrome (disorder)	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
syndroom van Ehlers-Danlos type 1	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, dysfibronectinaemic	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome classic type (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Brittle cornea syndrome (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
syndroom van Ehlers-Danlos met periventriculaire heterotopie	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome cardiac valvular type (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome vascular-like type	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Classical-like Ehlers-Danlos syndrome type 1	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Spondylodysplastic Ehlers-Danlos syndrome	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Myopathic Ehlers-Danlos syndrome (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Classical-like Ehlers-Danlos syndrome type 2	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Pre-existing Ehlers-Danlos syndrome during pregnancy (disorder)	Is a	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1766033012	Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1777678019	Ehlers-Danlos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786113017	Cutis hyperelastica dermatorrhexis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786114011	Dystrophia mesodermalis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786115012	India rubber skin	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786116013	Dermatorrhexis with dermatochalasis AND arthrochalasis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786117016	Hereditary collagen dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786118014	Meekeren-Ehlers-Danlos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786119018	Cutis elastica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786120012	Cutis hyperelastica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786121011	Danlos disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786122016	Fibrodysplasia elastica generalisata	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93511000146117	syndroom van Ehlers-Danlos	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2062581000146116	EDS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2062591000146119	cutis hyperelastica	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11836551000146115	Ehlers-Danlos-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11836561000146117	Ehlers-Danlos-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10300661000146119	Erfelijke aandoening met als belangrijkste kenmerken een zeer rekbare huid, overstrekbare gewrichten, met als mogelijk gevolg het sneller ontstaan van slijtage van de gewrichten en het vaker optreden van blauwe plekken.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)