25606004: Ehlers-Danlos-syndroom met hydroxylysinedeficiëntie (aandoening)

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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital kyphosis\Congenital kyphoscoliosis (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient

\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient

\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient

\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient

\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, hydroxylysine-deficient
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient

\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome kyphoscoliotic type (disorder)\Ehlers-Danlos syndrome, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient
\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, hydroxylysine-deficient

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome, hydroxylysine-deficient	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Some
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Occurrence	Congenital	false	Inferred relationship	Some
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Is a	Ehlers-Danlos syndrome (disorder)	false	Inferred relationship	Some
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Bone structure	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome, hydroxylysine-deficient	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Skin structure	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Bone structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, hydroxylysine-deficient	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, hydroxylysine-deficient	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, hydroxylysine-deficient	Is a	Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome, hydroxylysine-deficient	Occurrence	Congenital	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	Lateral abnormal curvature	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome, hydroxylysine-deficient	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome, hydroxylysine-deficient	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	5
Ehlers-Danlos syndrome, hydroxylysine-deficient	Associated morphology	Anteroposterior abnormal curvature (morphologic abnormality)	true	Inferred relationship	Some	5
Ehlers-Danlos syndrome, hydroxylysine-deficient	Occurrence	Congenital	true	Inferred relationship	Some	5
Ehlers-Danlos syndrome, hydroxylysine-deficient	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
keratoglobus door fragiliteit van cornea met blauwe sclera en gewrichtshypermobiliteit (aandoening)	Is a	False	Ehlers-Danlos syndrome, hydroxylysine-deficient	Inferred relationship	Some
recessief Ehlers-Danlos-syndroom type 4 (aandoening)	Is a	False	Ehlers-Danlos syndrome, hydroxylysine-deficient	Inferred relationship	Some
Ehlers-Danlos-syndroom van vasculair type (aandoening)	Is a	False	Ehlers-Danlos syndrome, hydroxylysine-deficient	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
42925018	Ehlers-Danlos syndrome, hydroxylysine-deficient	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42926017	Hydroxylysine-deficient collagen disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42927014	Ehlers-Danlos syndrome, lysyl hydroxylase deficient	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42928016	Protocollagen lysyl hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755943014	Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591656015	Ehlers-Danlos syndrome type 6A	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591660017	Ocular scoliotic EDS (Ehlers-Danlos syndrome)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7331411000146110	hydroxylysinedeficiënte collageenziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11740571000146114	Ehlers-Danlos-syndroom met hydroxylysinedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11740581000146111	Ehlers-Danlos-syndroom met hydroxylysinedeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11740591000146113	Ehlers-Danlos-syndroom type 6	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)