Cardiofaciocutaneous Syndrome

Preferred Label : Cardiofaciocutaneous Syndrome;

NCIt synonyms : Cardiofaciocutaneous (CFC) Syndrome; CFC;

NCIt related terms : CFC Syndrome;

CISMeF acronym : CFC;

NCIt definition : A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay.;

Alternative definition : NICHD: A rare, genetic syndrome most often caused by BRAF gene mutations, and characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin conditions, heart malformations, developmental delay, developmental delay and possible short stature due to reduced growth hormone.;

Details

Origin ID

C84617;

UMLS CUI

C1275081;

Currated CISMeF NLP mapping
- CFC syndrome [MedDRA LLT]
- Cardio facio cutaneous syndrome [PASCAL descriptor]
- Cardio-facio-cutaneous syndrome [ICD-11 More detail]
- Cardio-facio-cutaneous syndrome (disorder) [SNOMED CT concept]
- Cardiofaciocutaneous syndrome [MedDRA Preferred Term]
- Cardiofaciocutaneous syndrome [MeSH concept]
- Cardiofaciocutaneous syndrome [ORDO Disease]
- Cardiofaciocutaneous syndrome 1 [OMIM Phenotype]
- cardiofaciocutaneous syndrome [DO Concept]
- cardiofaciocutaneous syndrome [Disease (Nov.)]
- cardiofaciocutaneous syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CFC syndrome [MedDRA LLT]
- Cardio-facio-cutaneous syndrome (disorder) [SNOMED CT concept]
- Cardiofaciocutaneous syndrome [ORDO Disease]
- Cardiofaciocutaneous syndrome [MeSH concept]
- Cardiofaciocutaneous syndrome [MedDRA Preferred Term]
- Cardiofaciocutaneous syndrome 1 [OMIM Phenotype]
- cardiofaciocutaneous syndrome [MeSH Supplementary Concept]
- cardiofaciocutaneous syndrome [DO Concept]
- cardiofaciocutaneous syndrome [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- BRAF Gene [NCIt concept]
- KRAS Gene [NCIt concept]
- MAP2K1 Gene [NCIt concept]
- MAP2K2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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