773300008: Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\...
• \Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Body measurement finding\Height / growth finding\General finding of height\...
• \Body height below reference range\Short stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Finding of limb structure\Disorder of limb (disorder)\...
• \Structural abnormality of bone of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Structural abnormality of bone of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Structural abnormality of bone of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Structural abnormality of bone of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Structural abnormality of bone of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Structural abnormality of bone of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of limb (disorder)\Structural abnormality of bone of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital hypoplasia of skin (disorder)\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723037015	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723038013	Whyte syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723039017	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3722997010	A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405193019	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405194013	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterised by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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