765471005: X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\...
• \Rough skin\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Functional finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature 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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3659532013	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3659534014	Young Hughes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3659535010	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3659533015	A rare X-linked intellectual disability syndrome with characteristics of intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	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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