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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Primary hypogonadism (disorder)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Diabetes mellitus\Diabetes mellitus type 1 (disorder)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Diabetes mellitus type 1 (disorder)\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\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
5402946019	A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402947011	A rare, genetic, syndromic intellectual disability disorder characterised by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332204018	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
5402946019	A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402947011	A rare, genetic, syndromic intellectual disability disorder characterised by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3454681001000113	Intelligenzminderung-Dysmorphien-Hypogonadismus-Diabetes mellitus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6406881000241111	syndrome de déficience intellectuelle, dysmorphie craniofaciale, hypogonadisme et diabète sucré	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6406891000241113	syndrome de retard mental de type belge	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6406881000241111	syndrome de déficience intellectuelle, dysmorphie craniofaciale, hypogonadisme et diabète sucré	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6406891000241113	syndrome de retard mental de type belge	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454681001000113	Intelligenzminderung-Dysmorphien-Hypogonadismus-Diabetes mellitus-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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