Cleft palate, cardiac defect, genital anomalies, and ectrodactyly

Preferred Label : Cleft palate, cardiac defect, genital anomalies, and ectrodactyly;

CISMeF acronym : ACFS; CCGE;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Acrocardiofacial syndrome; ACFS; CCGE;

Inheritance : Autosomal recessive;

Prefixed ID : 600460;

Détails

Origin ID

600460;

UMLS CUI

C1838121;

Automatic exact mappings (from CISMeF team)
- ACF complex [NCIt concept]
- Aberrant Crypt Focus [NCIt concept]
- Cardio-acral-facial syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrocardiofacial syndrome [ICD-11 More detail]
- Acrocardiofacial syndrome [ORDO Disease]
- Acrocardiofacial syndrome (disorder) [SNOMED CT concept]
- cleft palate, cardiac defect, genital anomalies, and ectrodactyly [MeSH concept]
- cleft palate, cardiac defect, genital anomalies, and ectrodactyly [MeSH Supplementary Concept]
HPO term(s)
- Absent pulmonary artery [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clubbing [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Death in childhood [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic helices [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Micropenis [HPO term]
- Patent ductus arteriosus [HPO term]
- Shawl scrotum [HPO term]
- Split hand [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Acrocardiofacial syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocardiofacial syndrome [ORDO Disease]
- Acrocardiofacial syndrome (disorder) [SNOMED CT concept]
- cleft palate, cardiac defect, genital anomalies, and ectrodactyly [MeSH Supplementary Concept]
- cleft palate, cardiac defect, genital anomalies, and ectrodactyly [MeSH concept]

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