398114001: syndrome d'Ehlers-Danlos (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Ehlers-Danlos syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)
\Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Ehlers-Danlos syndrome (disorder)
\Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Ehlers-Danlos syndrome (disorder)
\Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)
\Disease\affection du tissu conjonctif\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)
\Disease\trouble métabolique\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)
\Disease\trouble métabolique\maladie métabolique de l'os\Ehlers-Danlos syndrome (disorder)
\Disease\Congenital disease\affection congénitale du tissu conjonctif\Ehlers-Danlos syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	affection congénitale du tissu conjonctif	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of skin	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Skin lesion	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	maladie métabolique de l'os	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	affection héréditaire du tissu conjonctif	false	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Metabolic disease of collagen	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	localisation d'une constatation (attribut)	Connective tissue structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ehlers-Danlos syndrome spondylocheirodysplastic type	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
syndrome d'Ehlers-Danlos par déficit en tenascin-X	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, type 4	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, type 2	est un(e) (attribut)	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, hydroxylysine-deficient	est un(e) (attribut)	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, type 3	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase resistant (disorder)	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, type 8 (disorder)	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder)	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Cutis laxa, x-linked (disorder)	est un(e) (attribut)	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, type 5	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, familial joint laxity type	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, type 1	est un(e) (attribut)	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome, dysfibronectinemic	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome classic type (disorder)	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Brittle cornea syndrome (disorder)	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome with periventricular heterotopia (disorder)	est un(e) (attribut)	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome cardiac valvular type (disorder)	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	est un(e) (attribut)	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type (disorder)	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos syndrome vascular-like type (disorder)	est un(e) (attribut)	False	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
syndrome d'Ehlers-Danlos type progéroïde	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	est un(e) (attribut)	True	Ehlers-Danlos syndrome (disorder)	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1766033012	Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1777678019	Ehlers-Danlos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786113017	Cutis hyperelastica dermatorrhexis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786114011	Dystrophia mesodermalis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786115012	India rubber skin	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786116013	Dermatorrhexis with dermatochalasis AND arthrochalasis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786117016	Hereditary collagen dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786118014	Meekeren-Ehlers-Danlos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786119018	Cutis elastica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786120012	Cutis hyperelastica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786121011	Danlos disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786122016	Fibrodysplasia elastica generalisata	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
586251000172118	syndrome d'Ehlers-Danlos	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
629281000241112	syndrome d'Ehlers-Danlos (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)