721875000: Juberg Marsidi syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi 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\Juberg Marsidi syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Juberg Marsidi syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Non-specific syndromic intellectual disability\Juberg Marsidi syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3326407018	Juberg Marsidi syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3326408011	Juberg Marsidi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326409015	An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit and hypotonic facies. Prevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported. The syndrome has characteristics of facial dysmorphism (a flat and broad nasal bridge, prominent forehead, up-slanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit. Inheritance is X-linked recessive and the syndrome is caused by mutations in the ATRX gene (Xq13.3).	en	Definition	Inactive	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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