773625007: Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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 nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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 nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (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\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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 nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (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\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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 nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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 nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (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\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)

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
3724864012	SOFT syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724865013	Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724866014	Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724867017	SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724868010	A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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