Conotruncal heart malformations

Preferred Label : Conotruncal heart malformations;

Symbol : CTHM;

CISMeF acronym : CAFS; CTHM; DORV; PTA;

Type : Phenotype, molecular basis known;

Included titles and symbols : Truncus arteriosus communis; Conotruncal anomaly face syndrome; Double-outlet right ventricle; Persistent truncus arteriosus; Interrupted aortic arch; CAFS; DORV; PTA;

Prefixed ID : #217095;

Details

Origin ID

217095;

UMLS CUI

C1857586;

Automatic exact mappings (from CISMeF team)
- 22q11.2 deletion syndrome [ORDO Disease]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Aortic arch interruption [ORDO Disease]
- Bladder Cancer pTa TNM Finding v8 [NCIt concept]
- CATCH 22 phenotype [ICD-11 Sub-sub category]
- Coagulation factor XI (substance) [SNOMED CT concept]
- Common arterial trunk [ICD-11 Subcategory]
- Common arterial trunk [ICD-10 Sub-category]
- Common truncus arteriosus (disorder) [SNOMED CT concept]
- Double outlet right ventricle [ORDO Disease]
- Double outlet right ventricle [HPO term]
- Interrupted Aortic Arch [NCIt concept]
- Interrupted aortic arch [ICD-11 Sub-sub category]
- Interrupted aortic arch [HPO term]
- Interrupted aortic arch (disorder) [SNOMED CT concept]
- Interruption of aortic arch [ICD-9 code]
- Interruption of aortic arch [MedDRA Preferred Term]
- Persistent Truncus Arteriosus [NCIt concept]
- Persistent truncus arteriosus (morphologic abnormality) [SNOMED CT concept]
- Post-traumatic amnesia (finding) [SNOMED CT concept]
- Prothrombin Activity Measurement [NCIt concept]
- TBX1 wt Allele [NCIt concept]
- Truncus arteriosus [ORDO Disease]
- Truncus arteriosus [HPO term]
- Truncus arteriosus communis [MedDRA LLT]
- Truncus arteriosus persistent [MedDRA Preferred Term]
- angioplasty, balloon [MeSH Descriptor]
- cono-truncal heart malformation [HGNC gene]
- conotruncal anomaly face syndrome [MeSH concept]
- digeorge syndrome [MeSH Descriptor]
- double outlet right ventricle [MeSH Descriptor]
- interruption of aortic arch [SNOMED Notion]
- percutaneous transluminal angioplasty [MeSH concept]
- percutaneous transluminal angioplasty, nos [SNOMED Notion]
- persistent truncus arteriosus [Radlex concept]
- phosphate acetyltransferase activity [GO term]
- truncus arteriosus, persistent [MeSH concept]
- truncus arteriosus, persistent [MeSH Descriptor]
Currated CISMeF NLP mapping
- Conotruncal heart malformations [ORDO Disease]
- conotruncal cardiac defects [MeSH concept]
- conotruncal cardiac defects [MeSH Supplementary Concept]
DO Cross reference
- double outlet right ventricle [DO Concept]
False automatic mappings
- Cancer-Associated Fibroblast [NCIt concept]
Genes related to phenotype
- Gata-binding protein 6 [OMIM gene]
- Nk2 homeobox 5 [OMIM gene]
- Nk2 homeobox 6 [OMIM gene]
- T-box transcription factor 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad hallux [HPO term]
- Coarctation of aorta [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Double outlet right ventricle [HPO term]
- Hypertelorism [HPO term]
- Postaxial polydactyly [HPO term]
- Transposition of the great arteries [HPO term]
- Truncus arteriosus [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
- Oral cleft [HPO term]
ORDO concept(s)
- Conotruncal heart malformations [ORDO Disease]
- Double outlet right ventricle [ORDO Disease]
- Truncus arteriosus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Conotruncal heart malformations [ORDO Disease]
- conotruncal cardiac defects [MeSH Supplementary Concept]
- conotruncal cardiac defects [MeSH concept]

Keyword's position in hierarchy(ies) :

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