722114007: Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Skin AND/OR mucosa finding\Skin finding\...

\Rough skin\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Viscus structure finding\Abdominal organ finding\Pelvic organ finding\Ovary finding\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female genital system\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Pelvic organ finding\Ovary finding\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Disorder of pelvis\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Female genitalia finding\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Female genitalia finding\Ovary finding\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Pelvic organ finding\Ovary finding\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Female genitalia finding\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Female genitalia finding\Ovary finding\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female genital system\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female genital system\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Functional finding\Decline in functional status\Decreased hormone secretion\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Functional finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Endocrine finding\Decreased hormone secretion\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female genital system\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female reproductive system\Disorder of female genital organs\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of female genital system\Disorder of ovary\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Ovarian dysfunction\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Premature ovarian failure\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, ichthyosis, premature ovarian failure syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Osteosclerosis, ichthyosis, premature ovarian failure syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330759010 Osteosclerosis, ichthyosis, premature ovarian failure syndrome en Synonym Active Case insensitive SNOMED CT core

3330760017 Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome en Synonym Active Case insensitive SNOMED CT core

3330771016 Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3330761018 This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs and occasional mild pain in the legs. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	4
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	4
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	5
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	6
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Decline in functional status	false	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Interprets	Bone density scan	true	Inferred relationship	Some	6
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Finding site	Entire skin	true	Inferred relationship	Some	3
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Decreased hormone secretion	false	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Premature ovarian failure	true	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Dysplasia with increased bone density	true	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Finding site	Ovarian endocrine structure	false	Inferred relationship	Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Finding site	Skin structure	false	Inferred relationship	Some	5
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Finding site	Bone structure	true	Inferred relationship	Some	5
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Finding site	Ovarian endocrine structure	true	Inferred relationship	Some	1
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	2
Osteosclerosis, ichthyosis, premature ovarian failure syndrome	Interprets	Hormone secretion	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330759010	Osteosclerosis, ichthyosis, premature ovarian failure syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330760017	Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330771016	Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330761018	This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs and occasional mild pain in the legs.	en	Definition	Active	Case sensitive	SNOMED CT core