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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Type 1 diabetes mellitus\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Type 1 diabetes mellitus\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3332205017	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332207013	Mental retardation syndrome Belgian type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start