Chronic atrial and intestinal dysrhythmia

Preferred Label : Chronic atrial and intestinal dysrhythmia;

Symbol : CAID;

CISMeF acronym : CAID;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the shugoshin-like-1 gene (SGOL1, 609168.0001);

Laboratory abnormalities : C-band karyotype shows 'railroad track' appearance;

Prefixed ID : #616201;

Details

Origin ID

616201;

UMLS CUI

C4015474;

Automatic exact mappings (from CISMeF team)
- SGO1 wt Allele [NCIt concept]
CISMeF manual mappings
- Chronic atrial and intestinal dysrhythmia syndrome [ORDO Disease]
- chronic atrial and intestinal dysrhythmia [DO Concept]
Currated CISMeF NLP mapping
- Chronic atrial and intestinal dysrhythmia (disorder) [SNOMED CT concept]
- Chronic atrial and intestinal dysrhythmia syndrome [MedDRA Preferred Term]
DO Cross reference
- chronic atrial and intestinal dysrhythmia [DO Concept]
Genes related to phenotype
- Shugoshin-like 1 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrial flutter [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bradycardia [HPO term]
- Decreased body weight [HPO term]
- Failure to thrive [HPO term]
- Mitral regurgitation [HPO term]
- Pulmonic stenosis [HPO term]
- Sick sinus syndrome [HPO term]
ORDO concept(s)
- Chronic atrial and intestinal dysrhythmia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic atrial and intestinal dysrhythmia (disorder) [SNOMED CT concept]
- Chronic atrial and intestinal dysrhythmia syndrome [ORDO Disease]
- Chronic atrial and intestinal dysrhythmia syndrome [MedDRA Preferred Term]
- chronic atrial and intestinal dysrhythmia [DO Concept]

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