Acrocardiofacial syndrome

Preferred Label : Acrocardiofacial syndrome;

ICD-11 definition : Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.;

Details

Origin ID

976844546;

Currated CISMeF NLP mapping
- Acrocardiofacial syndrome [ORDO Disease]
- Cleft palate, cardiac defect, genital anomalies, and ectrodactyly [OMIM Phenotype]
- 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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