83586000: Ehlers-Danlos syndrome, dysfibronectinemic (disorder)

SNOMED CT Concept\Clinical finding\...

\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, dysfibronectinaemic
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\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, dysfibronectinaemic
\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, dysfibronectinaemic

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\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\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\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, dysfibronectinaemic
\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, dysfibronectinaemic
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\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, dysfibronectinaemic
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\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, dysfibronectinaemic
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome, dysfibronectinaemic

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

138627019 Ehlers-Danlos syndrome, dysfibronectinemic en Synonym Active Case sensitive SNOMED CT core

138628012 Ehlers-Danlos syndrome, type 10 en Synonym Active Case sensitive SNOMED CT core

138629016 Ehlers-Danlos syndrome with platelet dysfunction en Synonym Active Case sensitive SNOMED CT core

505676016 Ehlers-Danlos syndrome, dysfibronectinaemic en Synonym Active Case sensitive SNOMED CT core

825250015 Ehlers-Danlos syndrome, dysfibronectinemic (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome, dysfibronectinaemic	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Pathological process	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	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Is a	Ehlers-Danlos syndrome	true	Inferred relationship	Some
Ehlers-Danlos syndrome, dysfibronectinaemic	Is a	Ehlers-Danlos syndrome	false	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	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	Congenital dysplasia	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	Congenital dysplasia	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	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

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
138627019	Ehlers-Danlos syndrome, dysfibronectinemic	en	Synonym	Active	Case sensitive	SNOMED CT core
138628012	Ehlers-Danlos syndrome, type 10	en	Synonym	Active	Case sensitive	SNOMED CT core
138629016	Ehlers-Danlos syndrome with platelet dysfunction	en	Synonym	Active	Case sensitive	SNOMED CT core
505676016	Ehlers-Danlos syndrome, dysfibronectinaemic	en	Synonym	Active	Case sensitive	SNOMED CT core
825250015	Ehlers-Danlos syndrome, dysfibronectinemic (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core