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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3659534014	Young Hughes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3659535010	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404541019	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404542014	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3659532013	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3659534014	Young Hughes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3659535010	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404541019	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404542014	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441601001000115	X-chromosomale Intelligenzminderung-Hypogonadismus-Ichthyose-Adipositas-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
930811000172117	syndrome de déficience intellectuelle liée à l'X-hypogonadisme-ichtyose-obésité-petite taille	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960481000172115	syndrome de Young-Hughes	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
930811000172117	syndrome de déficience intellectuelle liée à l'X-hypogonadisme-ichtyose-obésité-petite taille	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960481000172115	syndrome de Young-Hughes	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3441601001000115	X-chromosomale Intelligenzminderung-Hypogonadismus-Ichthyose-Adipositas-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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