721976003: Lung agenesis with heart defect and thumb anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly 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 anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome

\Respiratory finding\Lower respiratory tract finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Respiratory finding\Lower respiratory tract finding\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Respiratory finding\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of body system\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly 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\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lung agenesis with heart defect and thumb anomaly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3330003010 Mardini Nyhan syndrome en Synonym Active Case sensitive SNOMED CT core

3330005015 Lung agenesis with heart defect and thumb anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3330006019 Lung agenesis with heart defect and thumb anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3330004016 A very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lung agenesis with heart defect and thumb anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lung agenesis with heart defect and thumb anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lung agenesis with heart defect and thumb anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lung agenesis with heart defect and thumb anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Lung agenesis with heart defect and thumb anomaly syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	2
Lung agenesis with heart defect and thumb anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Lung agenesis with heart defect and thumb anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Lung agenesis with heart defect and thumb anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Lung agenesis with heart defect and thumb anomaly syndrome	Finding site	Lung structure	true	Inferred relationship	Some	1
Lung agenesis with heart defect and thumb anomaly syndrome	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	Congenital aplasia of lung	true	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	Congenital absence of lung	false	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	Congenital anomaly of thumb	true	Inferred relationship	Some
Lung agenesis with heart defect and thumb anomaly syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Lung agenesis with heart defect and thumb anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Lung agenesis with heart defect and thumb anomaly syndrome	Finding site	Lung structure	false	Inferred relationship	Some	3
Lung agenesis with heart defect and thumb anomaly syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Lung agenesis with heart defect and thumb anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Lung agenesis with heart defect and thumb anomaly syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Lung agenesis with heart defect and thumb anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Lung agenesis with heart defect and thumb anomaly syndrome	Finding site	Thumb structure	false	Inferred relationship	Some	5
Lung agenesis with heart defect and thumb anomaly syndrome	Finding site	Thumb structure	true	Inferred relationship	Some	3
Lung agenesis with heart defect and thumb anomaly syndrome	Finding site	Structure of heart	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330003010	Mardini Nyhan syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330005015	Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330006019	Lung agenesis with heart defect and thumb anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330004016	A very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development.	en	Definition	Active	Case sensitive	SNOMED CT core