724066002: Polysyndactyly and cardiac malformation syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\...
• \Disorder of digit\Congenital anomaly of digit\...
• \Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \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)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Polysyndactyly and cardiac malformation syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3429754015	Polysyndactyly and cardiac malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429755019	Polysyndactyly and cardiac malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429756018	Bonneau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403208014	A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403209018	A rare, life-threatening developmental defect during embryogenesis characterised by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429754015	Polysyndactyly and cardiac malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429755019	Polysyndactyly and cardiac malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429756018	Bonneau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429757010	Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403208014	A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403209018	A rare, life-threatening developmental defect during embryogenesis characterised by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3388331001000111	Polysyndaktylie - Herzfehler	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5486541000241115	syndrome de polysyndactylie et malformation cardiaque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5486541000241115	syndrome de polysyndactylie et malformation cardiaque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388331001000111	Polysyndaktylie - Herzfehler	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)

Back to Start