765471005: syndrome de déficience intellectuelle liée à l'X-hypogonadisme-ichtyose-obésité-petite taille (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \constatation fonctionnelle\Abnormal keratinisation\...
• \Rough skin (finding)\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \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)\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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
767811000241114	syndrome de déficience intellectuelle liée à l'X-hypogonadisme-ichtyose-obésité-petite taille (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
960481000172115	syndrome de Young-Hughes	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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