764959000: Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect 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\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Congenital disease\Congenital hypogonadotropic hypogonadism\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655775011	Chudley Rozdilsky syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3655776012	Intellectual disability, myopathy, short stature, endocrine defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3655777015	Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655778013	A rare congenital myopathy syndrome characterised by nonprogressive myopathy (manifesting with mild facial and generalised weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Case sensitive	SNOMED CT core
3655779017	A rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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