1287094005: Ehlers-Danlos syndrome classic type 2 (disorder)

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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2

\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\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 classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome classic type (disorder)\Ehlers-Danlos syndrome classic type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5256760016 Ehlers-Danlos syndrome classic type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5256761017 Ehlers-Danlos syndrome classic type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5256762012 A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5256763019 A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars and generalized joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
5256760016	Ehlers-Danlos syndrome classic type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5256761017	Ehlers-Danlos syndrome classic type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5256762012	A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5256763019	A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars and generalized joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core