721875000: Juberg Marsidi 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\Juberg Marsidi 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\Juberg Marsidi 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\Juberg Marsidi syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems.\Juberg Marsidi syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems.\Juberg Marsidi syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems.\Juberg Marsidi syndrome (disorder)
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems.\Juberg Marsidi syndrome (disorder)
• \Disease\Genetic disease\Genetic intellectual disability\A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems.\Juberg Marsidi syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems.\Juberg Marsidi syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Juberg Marsidi syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi 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\Juberg Marsidi 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\Juberg Marsidi syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems.\Juberg Marsidi syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems.\Juberg Marsidi syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Juberg Marsidi 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
3326407018	Juberg Marsidi syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326408011	Juberg Marsidi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5434508018	Brooks Wisniewski Brown syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5434509014	X-linked intellectual developmental disorder Turner type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5434510016	X-linked intellectual disability Brooks type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6366901000241116	syndrome de Juberg-Marsidi	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

GB English

US English

Back to Start