722454003: Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Diabetes mellitus\diabète de type 1\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble du métabolisme du glucose\Diabetes mellitus\diabète de type 1\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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
3332204018	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332205017	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332207013	Mental retardation syndrome Belgian type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3332206016	This syndrome has characteristics of moderate intellectual deficit, craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.	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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