719400000: Lethal faciocardiomelic dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Deformity\Congenital deformity\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia

\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 faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\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 faciocardiomelic dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3316217010 Lethal faciocardiomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3316218017 Lethal faciocardiomelic dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal faciocardiomelic dysplasia	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Lethal faciocardiomelic dysplasia	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Lethal faciocardiomelic dysplasia	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Existential restriction modifier
Lethal faciocardiomelic dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lethal faciocardiomelic dysplasia	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lethal faciocardiomelic dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Lethal faciocardiomelic dysplasia	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Lethal faciocardiomelic dysplasia	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	4
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Lethal faciocardiomelic dysplasia	Finding site	Entire limb	false	Inferred relationship	Existential restriction modifier	4
Lethal faciocardiomelic dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Lethal faciocardiomelic dysplasia	Finding site	Structure of left side of heart	false	Inferred relationship	Existential restriction modifier	5
Lethal faciocardiomelic dysplasia	Finding site	Structure of left side of heart	true	Inferred relationship	Existential restriction modifier	3
Lethal faciocardiomelic dysplasia	Is a	Congenital anomaly of cardiac chamber	false	Inferred relationship	Existential restriction modifier
Lethal faciocardiomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Lethal faciocardiomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Lethal faciocardiomelic dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Lethal faciocardiomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Lethal faciocardiomelic dysplasia	Finding site	Entire limb	true	Inferred relationship	Existential restriction modifier	1
Lethal faciocardiomelic dysplasia	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Lethal faciocardiomelic dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Lethal faciocardiomelic dysplasia	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Lethal faciocardiomelic dysplasia	Is a	Congenital deformity	false	Inferred relationship	Existential restriction modifier
Lethal faciocardiomelic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3316217010	Lethal faciocardiomelic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3316218017	Lethal faciocardiomelic dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module