1255121003: Classical-like Ehlers-Danlos syndrome type 2 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Range of joint movement increased\Hypermobility of joint\Classical-like Ehlers-Danlos syndrome type 2
• \Finding of movement\Movement disorder\Classical-like Ehlers-Danlos syndrome type 2
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \General finding of observation of patient\Procedure related finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Bone finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Joint finding\Hypermobility of joint\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Joint finding\Arthropathy\Dislocation of joint\Recurrent dislocation of joint\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Recurrent dislocation of joint\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Recurrent dislocation of joint\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Recurrent dislocation of joint\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Movement disorder\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Recurrent disease\Recurrent dislocation of joint\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Classical-like Ehlers-Danlos syndrome type 2
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Classical-like Ehlers-Danlos syndrome type 2

Status: current, Primitive. Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5144496010	Classical-like Ehlers-Danlos syndrome type 2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5144497018	AEBP1-related Ehlers-Danlos syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5144498011	Classical-like Ehlers-Danlos syndrome type 2 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5144499015	AEBP1-related EDS (Ehlers-Danlos syndrome)	en	Synonym	Active	Case sensitive	SNOMED CT core
5144502016	A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (e.g. mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphism (e.g. high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
5144503014	A rare systemic disease characterised by generalised joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (e.g. mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphism (e.g. high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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