733457006: syndrome d'Ehlers-Danlos/ostéogenèse imparfaite (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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \constatation fonctionnelle\Abnormal bone formation\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Abnormal bone formation\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\affection du tissu conjonctif\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble métabolique\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble métabolique\maladie métabolique de l'os\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \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)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499471011	Ehlers-Danlos and osteogenesis imperfecta syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499472016	Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
763121000241115	syndrome d'Ehlers-Danlos/ostéogenèse imparfaite (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
895111000172117	syndrome EDS/OI (Ehlers-Danlos/ostéogenèse imparfaite)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
923871000172116	syndrome d'Ehlers-Danlos/ostéogenèse imparfaite	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3500005011	An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500006012	An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterised by generalised joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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