Total anomalous pulmonary venous return 1

Preferred Label : Total anomalous pulmonary venous return 1;

Symbol : TAPVR1;

CISMeF acronym : APVR; TAPVR1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Scimitar syndrome; APVR; Anomalous pulmonary venous return; Scimitar anomaly;

Description : Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).;

Inheritance : Autosomal dominant;

Prefixed ID : %106700;

Détails

Origin ID

106700;

UMLS CUI

C4551904;

Automatic exact mappings (from CISMeF team)
- Congenital pulmonary venous return anomaly [ORDO Disease]
- Congenital total pulmonary venous return anomaly [ORDO Disease]
- Other congenital malformations of great veins [ICD-10 Sub-category]
- Other congenital malformations of great veins [ICD-10 Sub-category (who)]
- Scimitar syndrome [PASCAL descriptor]
- Scimitar syndrome [ICD-11 Sub-sub category]
- scimitar syndrome [DO Concept]
- total anomalous pulmonary venous return 1 [HGNC gene]
Currated CISMeF NLP mapping
- Anomalous pulmonary venous return [HRDO Sign]
- Anomalous pulmonary venous return [HPO term]
- Scimitar Syndrome [NCIt concept]
- Scimitar anomaly [HPO term]
- Scimitar syndrome [MedDRA Preferred Term]
- Scimitar syndrome [ORDO Disease]
- Scimitar syndrome (disorder) [SNOMED CT concept]
- scimitar syndrome [MeSH Descriptor]
- scimitar syndrome [MeSH concept]
- scimitar syndrome [SNOMED Notion]
DO Cross reference
- scimitar syndrome [DO Concept]
HPO term(s)
- Abnormality of the skeletal system [HPO term]
- Aplasia/Hypoplasia of the nails [HPO term]
- Autosomal dominant inheritance [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Recurrent respiratory infections [HPO term]
- Tapered distal phalanges of finger [HPO term]
- Total anomalous pulmonary venous return [HPO term]
ORDO concept(s)
- Congenital total pulmonary venous return anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Scimitar Syndrome [NCIt concept]
- Scimitar anomaly [HPO term]
- Scimitar syndrome [MedDRA Preferred Term]
- Scimitar syndrome [ORDO Disease]
- Scimitar syndrome (disorder) [SNOMED CT concept]
- scimitar syndrome [SNOMED Notion]
- scimitar syndrome [MeSH Descriptor]
- scimitar syndrome [MeSH concept]
- scimitar syndrome [DO Concept]
- total anomalous pulmonary venous return [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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