Cardio-facio-cutaneous syndrome

Preferred Label : Cardio-facio-cutaneous syndrome;

ICD-11 definition : Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by psychomotor delay, muscular hypotonia, feeding problems, short stature, relative macrocephaly, typical face, ectodermal abnormalities consisting typically of sparse and curly hair, absent eyebrows, ulerythema ophryogenes and congenital heart defects (mainly pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy).;

Details

Origin ID

498160288;

Currated CISMeF NLP mapping
- CFC syndrome [MedDRA LLT]
- Cardio facio cutaneous syndrome [PASCAL descriptor]
- Cardio-facio-cutaneous syndrome (disorder) [SNOMED CT concept]
- Cardiofaciocutaneous Syndrome [NCIt concept]
- Cardiofaciocutaneous syndrome [MeSH concept]
- Cardiofaciocutaneous syndrome [ORDO Disease]
- Cardiofaciocutaneous syndrome [MedDRA Preferred Term]
- Cardiofaciocutaneous syndrome 1 [OMIM Phenotype]
- cardiofaciocutaneous syndrome [DO Concept]
- cardiofaciocutaneous syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients