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 (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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 (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\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 (disorder)\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\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\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (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 (disorder)\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\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\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\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\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 (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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)\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)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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 (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\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 (disorder)\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 (disorder)\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)\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\X-linked Ehlers-Danlos syndrome
\Disease\Developmental disorder (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 (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\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	Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Severity	Mild	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome	Finding site	Connective tissue structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Is a	Ehlers-Danlos syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked Ehlers-Danlos syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked Ehlers-Danlos syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked Ehlers-Danlos syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked Ehlers-Danlos syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked Ehlers-Danlos syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked Ehlers-Danlos syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked Ehlers-Danlos syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked Ehlers-Danlos syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Ehlers-Danlos syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
500658014	Ehlers-Danlos syndrome type V	en	Synonym (core metadata concept)	Active	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
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)	Active	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	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
806901018	Ehlers-Danlos syndrome, type 5 (disorder)	en	Fully specified name	Active	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
3381961001000112	Ehlers-Danlos-Syndrom, X-chromosomales	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4609891000241114	syndrome d'Ehlers-Danlos lié à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4609891000241114	syndrome d'Ehlers-Danlos lié à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3381961001000112	Ehlers-Danlos-Syndrom, X-chromosomales	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module