725029001: Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Frontonasal dysplasia with alopecia and genital anomaly 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\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Frontonasal dysplasia with alopecia and genital anomaly 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\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly 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\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Frontonasal dysplasia with alopecia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Frontonasal dysplasia with alopecia and genital anomaly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3437017017 Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3437018010 Frontonasal dysplasia with alopecia and genital anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3437020013 Craniofrontonasal dysplasia with alopecia and hypogonadism en Synonym Active Case insensitive SNOMED CT core

3437021012 Frontonasal dysplasia with alopecia and genital abnomality en Synonym Active Case insensitive SNOMED CT core

3780964011 ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly en Synonym Active Case sensitive SNOMED CT core

3437022017 A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	3
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	2
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Congenital alopecia	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Congenital alopecia	false	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Hypogonadism	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Frontonasal dysplasia sequence	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Total congenital alopecia	false	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Is a	Congenital anomaly of endocrine gonad	true	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	5
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	6
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Finding site	Face structure	false	Inferred relationship	Some	7
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	4
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Finding site	Hair structure	false	Inferred relationship	Some	4
Frontonasal dysplasia with alopecia and genital anomaly syndrome	Finding site	Face structure	true	Inferred relationship	Some	4

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
3437017017	Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3437018010	Frontonasal dysplasia with alopecia and genital anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3437020013	Craniofrontonasal dysplasia with alopecia and hypogonadism	en	Synonym	Active	Case insensitive	SNOMED CT core
3437021012	Frontonasal dysplasia with alopecia and genital abnomality	en	Synonym	Active	Case insensitive	SNOMED CT core
3780964011	ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly	en	Synonym	Active	Case sensitive	SNOMED CT core
3437022017	A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core