83470009: Ehlers-Danlos syndrome, type 1 (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 classic type\Ehlers-Danlos syndrome, type 1
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\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 classic type\Ehlers-Danlos syndrome, type 1
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Ehlers-Danlos syndrome classic type\Ehlers-Danlos syndrome, type 1

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

Descriptions:

Id Description Lang Type Status Case? Module

138440018 Ehlers-Danlos syndrome, type 1 en Synonym Active Entire term case sensitive SNOMED CT core module

138441019 Ehlers-Danlos syndrome, severe classic form en Synonym Active Entire term case sensitive SNOMED CT core module

138442014 Ehlers-Danlos syndrome, gravis en Synonym Active Entire term case sensitive SNOMED CT core module

825110010 Ehlers-Danlos syndrome, type 1 (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

1234831013 Ehlers-Danlos syndrome type I 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, type 1	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 1	Severity	Severe	false	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 1	Finding site	Connective tissue structure	true	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 1	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 1	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 1	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome, type 1	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome, type 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome, type 1	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome, type 1	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome, type 1	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome, type 1	Is a	Ehlers-Danlos syndrome classic type	true	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome, type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome, type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome, type 1	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome, type 1	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Ehlers-Danlos syndrome, type 1	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Ehlers-Danlos syndrome, type 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
138440018	Ehlers-Danlos syndrome, type 1	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
138441019	Ehlers-Danlos syndrome, severe classic form	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
138442014	Ehlers-Danlos syndrome, gravis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
825110010	Ehlers-Danlos syndrome, type 1 (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1234831013	Ehlers-Danlos syndrome type I	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module