Tetralogy of fallot

Preferred Label : Tetralogy of fallot;

Symbol : TOF;

CISMeF acronym : TOF;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #187500;

Details

Origin ID

187500;

UMLS CUI

C0039685;

Automatic exact mappings (from CISMeF team)
- FEZ family zinc finger 2 [HGNC gene]
- Tetralogy of Fallot with [ACR pathology]
- Time-of-Flight [NCIt concept]
- congenital anomaly cardiovascular [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Fallot tetralogy [PASCAL descriptor]
- Fallot tetralogy [MedDRA LLT]
- Fallot tetralogy of [MedDRA LLT]
- Fallot's tetralogy [MedDRA Preferred Term]
- Tetralogy of Fallot [ICD-10 Sub-category]
- Tetralogy of Fallot [ICD-11 Subcategory]
- Tetralogy of Fallot [ICD-10 Sub-category (who)]
- Tetralogy of Fallot [HPO term]
- Tetralogy of Fallot [NCIt concept]
- Tetralogy of Fallot [ORDO Disease]
- Tetralogy of Fallot [MedDRA LLT]
- Tetralogy of Fallot (disorder) [SNOMED CT concept]
- Tetralogy of fallot [ICD-9 code]
- tetralogy of Fallot [DO Concept]
- tetralogy of Fallot [Disease (Nov.)]
- tetralogy of Fallot [Radlex concept]
- tetralogy of fallot [MeSH Descriptor]
- tetralogy of fallot [MeSH concept]
- tetralogy of fallot [SNOMED Notion]
DO Cross reference
- tetralogy of Fallot [DO Concept]
Genes related to phenotype
- Gata-binding protein 4 [OMIM gene]
- Gata-binding protein 6 [OMIM gene]
- Jagged 1 [OMIM gene]
- Nk2 homeobox 5 [OMIM gene]
- T-box transcription factor 1 [OMIM gene]
- Zinc finger protein, fog family member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Preauricular pit [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Tetralogy of Fallot [HPO term]
ORDO concept(s)
- Tetralogy of Fallot [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Fallot tetralogy [MedDRA LLT]
- Fallot tetralogy [PASCAL descriptor]
- Fallot tetralogy of [MedDRA LLT]
- Fallot's tetralogy [MedDRA Preferred Term]
- Tetralogy of Fallot [ICD-10 Sub-category (who)]
- Tetralogy of Fallot [ORDO Disease]
- Tetralogy of Fallot [NCIt concept]
- Tetralogy of Fallot [MedDRA LLT]
- Tetralogy of Fallot [ICD-10 Sub-category]
- Tetralogy of Fallot [HPO term]
- Tetralogy of Fallot [ICD-11 Subcategory]
- Tetralogy of Fallot (disorder) [SNOMED CT concept]
- Tetralogy of fallot [ICD-9 code]
- tetralogy of Fallot [Radlex concept]
- tetralogy of Fallot [DO Concept]
- tetralogy of Fallot [Disease (Nov.)]
- tetralogy of fallot [SNOMED Notion]
- tetralogy of fallot [MeSH Descriptor]
- tetralogy of fallot [MeSH concept]

Keyword's position in hierarchy(ies) :

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