720859009: Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of spine (finding)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Deformity (finding)\Deformity of spine (finding)\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Deformity (finding)\Deformity of spine (finding)\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Finding of spinal region\Deformity of spine (finding)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Finding of spinal region\Deformity of spine (finding)\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Finding of spinal region\Deformity of spine (finding)\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\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 syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\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)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\Sensorineural hearing loss\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\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 syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\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 syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\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 syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\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)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\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\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine (disorder)\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3322317014 Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3322318016 Ehlers-Danlos syndrome kyphoscoliotic and deafness type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3322319012 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3322320018 Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4591661018 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5402510016 A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402511017 A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterised by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Ehlers-Danlos syndrome (disorder)	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Congenital kyphoscoliosis (disorder)	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Interprets	Hearing	true	Inferred relationship	Some	6
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Lateral abnormal curvature	false	Inferred relationship	Some	10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Congenital anomaly of vertebral region of back	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Lateral abnormal curvature	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Skeletal dysplasia	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Congenital deformity	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Congenital deformity of spine	false	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	Anteroposterior abnormal curvature (morphologic abnormality)	true	Inferred relationship	Some	7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322317014	Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322318016	Ehlers-Danlos syndrome kyphoscoliotic and deafness type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322319012	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322320018	Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591661018	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5402510016	A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402511017	A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterised by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core