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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephaly, seizure, intellectual disability, heart disease syndrome

\Finding of trunk structure\Finding of upper trunk\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
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease 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\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Finding of trunk structure\Finding of upper trunk\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
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease 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\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Finding of trunk structure\Disorder of trunk\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
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease 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\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\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\Encephalopathy\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly, seizure, intellectual disability, heart disease syndrome

\Finding of brain\Seizure\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disorder of head\Encephalopathy\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome

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

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly, seizure, intellectual disability, heart disease syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\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 body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of trunk\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
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly, seizure, intellectual disability, heart disease syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3423989018 Microcephaly, seizure, intellectual disability, heart disease syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, seizure, intellectual disability, heart disease syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	2
Microcephaly, seizure, intellectual disability, heart disease syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome	Finding site	Structure of head	true	Inferred relationship	Some	1
Microcephaly, seizure, intellectual disability, heart disease syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Microcephaly, seizure, intellectual disability, heart disease syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Microcephaly, seizure, intellectual disability, heart disease syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Microcephaly, seizure, intellectual disability, heart disease syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Microcephaly, seizure, intellectual disability, heart disease syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome	Is a	Seizure disorder	true	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Microcephaly, seizure, intellectual disability, heart disease syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome	Finding site	Structure of heart	false	Inferred relationship	Some	3
Microcephaly, seizure, intellectual disability, heart disease syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	4
Microcephaly, seizure, intellectual disability, heart disease syndrome	Finding site	Brain structure	true	Inferred relationship	Some	4
Microcephaly, seizure, intellectual disability, heart disease 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
3423988014	Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3423989018	Microcephaly, seizure, intellectual disability, heart disease syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core