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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\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\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	Microcephalus	false	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	Congenital heart disease	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	Seizure disorder	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Finding site	Heart structure	false	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Finding site	Heart structure	true	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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