1229876001: Lethal brain and heart developmental defects syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome

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

\Finding of brain\Disorder of brain\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Lethal brain and heart developmental defects syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal brain and heart developmental defects syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal brain and heart developmental defects syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal brain and heart developmental defects syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal brain and heart developmental defects syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal brain and heart developmental defects 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\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal brain and heart developmental defects syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5065585015 Lethal brain and heart developmental defects syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5065586019 Lethal brain and heart developmental defects syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal brain and heart developmental defects syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Lethal brain and heart developmental defects syndrome	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Existential restriction modifier
Lethal brain and heart developmental defects syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lethal brain and heart developmental defects syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lethal brain and heart developmental defects syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Lethal brain and heart developmental defects syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Lethal brain and heart developmental defects syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lethal brain and heart developmental defects syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Lethal brain and heart developmental defects syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	1
Lethal brain and heart developmental defects syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Lethal brain and heart developmental defects syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Lethal brain and heart developmental defects syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Lethal brain and heart developmental defects syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Lethal brain and heart developmental defects syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Lethal brain and heart developmental defects syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Lethal brain and heart developmental defects syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Lethal brain and heart developmental defects syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	3
Lethal brain and heart developmental defects syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	3
Lethal brain and heart developmental defects syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5065585015	Lethal brain and heart developmental defects syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5065586019	Lethal brain and heart developmental defects syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module