723304001: Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3423988014	Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3423989018	Microcephaly, seizure, intellectual disability, heart disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402995019	A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402996018	A rare, multiple congenital anomalies/dysmorphic syndrome characterised by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3423988014	Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3423989018	Microcephaly, seizure, intellectual disability, heart disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3423990010	This syndrome has characteristics of intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures and skeletal anomalies. It has been described in two males.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402995019	A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402996018	A rare, multiple congenital anomalies/dysmorphic syndrome characterised by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3397181001000110	Mikrozephalie-Krämpfe-Intelligenzminderung-Kardiopathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5485441000241111	syndrome de microcéphalie-épilepsie-déficience intellectuelle-cardiopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5485441000241111	syndrome de microcéphalie-épilepsie-déficience intellectuelle-cardiopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3397181001000110	Mikrozephalie-Krämpfe-Intelligenzminderung-Kardiopathie-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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