1237225007: Ehlers-Danlos-syndroom van dermatosparaxistype (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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis 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)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Dermatosparaxis Ehlers-Danlos syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Is a	Ehlers-Danlos syndrome (disorder)	true	Inferred relationship	Some
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5091237016	Human dermatosparaxis EDS VIIC (Ehlers-Danlos syndrome type 7C)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5091238014	Dermatosparaxis Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5091239018	Ehlers-Danlos syndrome type 7C	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5091240016	Dermatosparaxis Ehlers-Danlos syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5091241017	Dermatosparaxis EDS (Ehlers-Danlos syndrome)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
14043451000146118	syndroom van Ehlers-Danlos type 7C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14043461000146115	EDS type 7C	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14043471000146114	Ehlers-Danlos-syndroom van dermatosparaxistype	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14043481000146111	Ehlers-Danlos-syndroom van dermatosparaxistype (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5091242012	A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core