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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Lung finding\Disease of lung (disorder)\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\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 (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\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)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\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)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Lung finding\Disease of lung (disorder)\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)\Finding of region of thorax\Disorder of thorax (disorder)\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)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disease of lung (disorder)\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)\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)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\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)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\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)\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 (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
• \Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Respiratory finding\Lower respiratory tract finding\Lung finding\Disease of lung (disorder)\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 (disorder)\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
• \Respiratory finding\Disorder of respiratory system\Disease of lower respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
• \Respiratory finding\Disorder of respiratory system\Disease of lower respiratory system\Disease of lung (disorder)\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
• \Respiratory finding\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\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 (disorder)\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 foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of foetus and/or newborn\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\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\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of body system\Disorder of respiratory system\Disease of lower respiratory system\Congenital anomaly of lower respiratory system (disorder)\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\Disorder of respiratory system\Disease of lower respiratory system\Disease of lung (disorder)\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\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\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\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of trunk (disorder)\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)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\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)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\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)\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 (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\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 (disorder)\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital absence of lung\Congenital aplasia of lung\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\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 (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Lung agenesis with heart defect and thumb anomaly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Lung agenesis with heart defect and thumb anomaly syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330003010	Mardini Nyhan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330005015	Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330006019	Lung agenesis with heart defect and thumb anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402754013	A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402755014	A rare genetic disease characterised by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330003010	Mardini Nyhan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330005015	Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330005015	Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330006019	Lung agenesis with heart defect and thumb anomaly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330006019	Lung agenesis with heart defect and thumb anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402754013	A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402755014	A rare genetic disease characterised by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3435711001000114	Lungenagenesie-Herzfehler-Daumenanomalien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5483181000241111	agénésie pulmonaire avec anomalie cardiaque et syndrome d'anomalie du pouce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5483181000241111	agénésie pulmonaire avec anomalie cardiaque et syndrome d'anomalie du pouce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435711001000114	Lungenagenesie-Herzfehler-Daumenanomalien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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