720981000: syndrome d'alopécie-déficience intellectuelle-hypogonadisme hypergonadotrope (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \constatation à propos de la pilosité\trouble de la pilosité\...
• \Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\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
756771000241119	syndrome d'alopécie-déficience intellectuelle-hypogonadisme hypergonadotrope (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
945421000172118	syndrome de Devriendt-Vendenberghe-Fryns	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
969261000172118	syndrome d'alopécie-déficience intellectuelle-hypogonadisme hypergonadotrope	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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