67202007: X-linked Ehlers-Danlos syndrome (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)\X-linked Ehlers-Danlos syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome

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

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

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

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
111647010	Ehlers-Danlos syndrome, type 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
111648017	Ehlers-Danlos syndrome, mild x-linked	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
500658014	Ehlers-Danlos syndrome type V	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
806901018	Ehlers-Danlos syndrome, type 5 (disorder)	en	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789636010	X-linked Ehlers-Danlos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5250238010	X-linked Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core