719380003: syndroom van microcefalie en cardiomyopathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)

\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cardiomyopathy syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Microcephalus cardiomyopathy syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus cardiomyopathy 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\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy 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\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy 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\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy 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\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy 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\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy 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\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy 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\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy 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\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Microcephalus cardiomyopathy syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Microcephalus cardiomyopathy syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephalus cardiomyopathy syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Microcephalus cardiomyopathy syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy 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\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalus cardiomyopathy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cardiomyopathy syndrome (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus cardiomyopathy syndrome (disorder)	Is a	microcefalie	false	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Congestive cardiomyopathy (disorder)	true	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
Microcephalus cardiomyopathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephalus cardiomyopathy syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Microcephalus cardiomyopathy syndrome (disorder)	Associated morphology	Dilatation	false	Inferred relationship	Some	3
Microcephalus cardiomyopathy syndrome (disorder)	Finding site	Myocardium structure	false	Inferred relationship	Some	3
Microcephalus cardiomyopathy syndrome (disorder)	Associated morphology	Dilatation	false	Inferred relationship	Some	2
Microcephalus cardiomyopathy syndrome (disorder)	Finding site	Myocardium structure	false	Inferred relationship	Some	2
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Microcephalus cardiomyopathy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephalus cardiomyopathy syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephalus cardiomyopathy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Microcephalus cardiomyopathy syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	1
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	2
Microcephalus cardiomyopathy syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Microcephalus cardiomyopathy syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Microcephalus cardiomyopathy syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Microcephalus cardiomyopathy syndrome (disorder)	Finding site	Myocardium structure	true	Inferred relationship	Some	1
Microcephalus cardiomyopathy syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Microcephalus cardiomyopathy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Microcephalus cardiomyopathy syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Microcephalus cardiomyopathy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Microcephalus cardiomyopathy syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316163011	Winship Viljoen Leary syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316190019	Microcephalus cardiomyopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316191015	Microcephalus cardiomyopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316192010	Microcephaly cardiomyopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6789171000146115	syndroom van microcefalie en cardiomyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6789181000146118	syndroom van microcefalie en cardiomyopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6789191000146116	syndroom van Winship-Viljoen-Leary	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3316189011	Syndrome with characteristics of severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core