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\Ichthyosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\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\Disorder of the genitourinary system (disorder)\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 (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\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 (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\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 (finding)\Disorder of the genitourinary system (disorder)\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 (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\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\Disorder of the genitourinary system (disorder)\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)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\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 (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\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 (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\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

\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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 (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\Ichthyosis\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\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\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 (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\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 (disorder)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
\Disease\Disorder of body system\Disorder of endocrine system\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 of endocrine gonad\Hypogonadism\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\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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)\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)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\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)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental 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 malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\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, 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

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

4187731000052114 syndrom med X-bunden intellektuell funktionsnedsättning, hypogonadism, iktyos, fetma och kortvuxenhet sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	Primary hypogonadism (disorder)	true	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	Functional finding	false	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Interprets	Keratinization	true	Inferred relationship	Some	3
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Finding site	Entire skin	true	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
4187731000052114	syndrom med X-bunden intellektuell funktionsnedsättning, hypogonadism, iktyos, fetma och kortvuxenhet	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)