719380003: Microcephalus cardiomyopathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome

\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephaly cardiomyopathy syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly cardiomyopathy syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly cardiomyopathy syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephaly cardiomyopathy syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Microcephaly cardiomyopathy syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephaly cardiomyopathy syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly cardiomyopathy syndrome

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Microcephaly cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephaly cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly cardiomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Congestive cardiomyopathy\Microcephaly cardiomyopathy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly cardiomyopathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly cardiomyopathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephaly cardiomyopathy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephaly cardiomyopathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly cardiomyopathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly cardiomyopathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephaly cardiomyopathy syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3316163011 Winship Viljoen Leary syndrome en Synonym Active Case sensitive SNOMED CT core

3316190019 Microcephalus cardiomyopathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3316191015 Microcephalus cardiomyopathy syndrome en Synonym Active Case insensitive SNOMED CT core

3316192010 Microcephaly cardiomyopathy syndrome en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly cardiomyopathy syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Microcephaly cardiomyopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microcephaly cardiomyopathy syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephaly cardiomyopathy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Microcephaly cardiomyopathy syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microcephaly cardiomyopathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Finding site	Structure of head	true	Inferred relationship	Some	2
Microcephaly cardiomyopathy syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Microcephaly cardiomyopathy syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Microcephaly cardiomyopathy syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Microcephaly cardiomyopathy syndrome	Finding site	Myocardium structure	true	Inferred relationship	Some	1
Microcephaly cardiomyopathy syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Microcephaly cardiomyopathy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Microcephaly cardiomyopathy syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Microcephaly cardiomyopathy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Microcephaly cardiomyopathy syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Is a	Congestive cardiomyopathy	true	Inferred relationship	Some
Microcephaly cardiomyopathy syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Microcephaly cardiomyopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephaly cardiomyopathy syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Microcephaly cardiomyopathy syndrome	Associated morphology	Dilatation	false	Inferred relationship	Some	3
Microcephaly cardiomyopathy syndrome	Finding site	Myocardium structure	false	Inferred relationship	Some	3
Microcephaly cardiomyopathy syndrome	Associated morphology	Dilatation	false	Inferred relationship	Some	2
Microcephaly cardiomyopathy syndrome	Finding site	Myocardium structure	false	Inferred relationship	Some	2
Microcephaly cardiomyopathy syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316163011	Winship Viljoen Leary syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3316190019	Microcephalus cardiomyopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316191015	Microcephalus cardiomyopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316192010	Microcephaly cardiomyopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core