Cayler cardiofacial syndrome

Preferred Label : Cayler cardiofacial syndrome;

CISMeF acronym : ACF;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Asymmetric crying facies; ACF; Facial paresis, partial, unilateral; Depressor anguli oris muscle, hypoplasia of;

Inheritance : Autosomal dominant;

Prefixed ID : %125520;

Détails

Origin ID

125520;

UMLS CUI

C0431406;

Automatic exact mappings (from CISMeF team)
- 22q11.2 deletion syndrome [ORDO Disease]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- A1CF wt Allele [NCIt concept]
- ACF complex [NCIt concept]
- Aberrant Crypt Focus [NCIt concept]
- Ambulatory Care Facility [NCIt concept]
Currated CISMeF NLP mapping
- Asymmetric crying face [HPO term]
- Asymmetric crying face association (disorder) [SNOMED CT concept]
- Asymmetric crying facies [MedDRA Preferred Term]
- Cayler cardiofacial syndrome [MedDRA Preferred Term]
- Cayler cardiofacial syndrome [MeSH concept]
- Congenital unilateral hypoplasia of depressor anguli oris [ORDO Disease]
- asymmetric crying face association [SNOMED Notion]
- cayler cardiofacial syndrome [MeSH Supplementary Concept]
HPO term(s)
- Asymmetric crying face [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Patent ductus arteriosus [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- 22q11.2 deletion syndrome [ORDO Disease]
- Congenital unilateral hypoplasia of depressor anguli oris [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Asymmetric crying face [HPO term]
- Asymmetric crying face association (disorder) [SNOMED CT concept]
- Asymmetric crying facies [MedDRA Preferred Term]
- Cayler cardiofacial syndrome [MeSH concept]
- Cayler cardiofacial syndrome [MedDRA Preferred Term]
- Congenital unilateral hypoplasia of depressor anguli oris [ORDO Disease]
- asymmetric crying face association [SNOMED Notion]
- cayler cardiofacial syndrome [MeSH Supplementary Concept]

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