770941005: Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy 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\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Congenital disease\Congenital hypogonadotropic hypogonadism\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy 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\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703539016	ANE syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3703540019	Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3703541015	ANE (alopecia, progressive neurological defect, endocrinopathy) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3703542010	Alopecia, progressive neurological defect, endocrinopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3703543017	A rare genetic neuro-endocrino-cutaneous disorder with characteristics of highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, microcephaly and kyphoscoliosis. There is evidence the disease is caused by homozygous mutation in the RBM28 gene on chromosome 7q32.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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