720981000: Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\...
• \Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \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)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322766014	Devriendt Vandenberghe Fryns syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322769019	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322770018	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402548014	A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402549018	A rare multiple congenital anomalies syndrome characterised by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322766014	Devriendt Vandenberghe Fryns syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322769019	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322769019	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322770018	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322770018	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322767017	This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Electroencephalogram findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402548014	A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402549018	A rare multiple congenital anomalies syndrome characterised by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3436701001000118	Alopezie-Intelligenzminderung-hypergonadotroper Hypogonadismus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
945421000172118	syndrome de Devriendt-Vendenberghe-Fryns	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
969261000172118	syndrome d'alopécie-déficience intellectuelle-hypogonadisme hypergonadotrope	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
945421000172118	syndrome de Devriendt-Vendenberghe-Fryns	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
969261000172118	syndrome d'alopécie-déficience intellectuelle-hypogonadisme hypergonadotrope	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436701001000118	Alopezie-Intelligenzminderung-hypergonadotroper Hypogonadismus-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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