733457006: Ehlers-Danlos and osteogenesis imperfecta 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 and osteogenesis imperfecta syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Range of joint movement increased (finding)\Hypermobility of joint\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Finding of movement (finding)\Movement disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta 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 and osteogenesis imperfecta 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 and osteogenesis imperfecta syndrome
• \Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Bone density below reference range\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos and osteogenesis imperfecta 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 and osteogenesis imperfecta 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 and osteogenesis imperfecta syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Joint finding\Hypermobility of joint\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta 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\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta 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\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ehlers-Danlos and osteogenesis imperfecta 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 and osteogenesis imperfecta syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos and osteogenesis imperfecta 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 and osteogenesis imperfecta 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 and osteogenesis imperfecta 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 and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta 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\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta 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\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Movement disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Ehlers-Danlos and osteogenesis imperfecta syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\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
5403791012	A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association 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
5403792017	A rare systemic disease characterised by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalised joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association 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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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