cardiofaciocutaneous syndrome

Preferred Label : cardiofaciocutaneous syndrome;

MeSH note : Congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure;

MeSH synonym : Cardio-Facio-Cutaneous syndrome;

Details

Origin ID

C535579;

UMLS CUI

C1275081;

CISMeF manual mappings
- Cardio-facio-cutaneous syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- CFC syndrome [MedDRA LLT]
- Cardio facio cutaneous syndrome [PASCAL descriptor]
- Cardio-facio-cutaneous syndrome [ICD-11 More detail]
- Cardiofaciocutaneous Syndrome [NCIt concept]
- Cardiofaciocutaneous syndrome [MedDRA Preferred Term]
- Cardiofaciocutaneous syndrome [ORDO Disease]
- Cardiofaciocutaneous syndrome 1 [OMIM Phenotype]
- cardiofaciocutaneous syndrome [DO Concept]
- cardiofaciocutaneous syndrome [Disease (Nov.)]
Has phenotype(s) (HPO)
- Absent eyebrows and eyelashes [HPO term]
- Bitemporal narrowing [HPO term]
- Bulbous nasal tip [HPO term]
- Feeding difficulties [HPO term]
- Flattened nasal bridge [HPO term]
- High-arched palate [HPO term]
- Ichthyosis [HPO term]
- Isolated cases [HPO term]
- Onset in utero [HPO term]
- Prominent philtrum [HPO term]
- Severe atopic dermatitis [HPO term]
- Shallow orbital ridges [HPO term]
- Short, upturned nose [HPO term]
MeSH term(s) associated for indexing
- ectodermal dysplasia [MeSH Descriptor]
- facies [MeSH Descriptor]
- failure to thrive [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
ORDO relation(s)
- Cardiofaciocutaneous syndrome [ORDO Disease]
Record concept(s)
- Cardiofaciocutaneous syndrome [MeSH 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 [NCIt concept]
- Cardiofaciocutaneous syndrome [ORDO Disease]
- Cardiofaciocutaneous syndrome [MedDRA Preferred Term]
- Cardiofaciocutaneous syndrome 1 [OMIM Phenotype]
- cardiofaciocutaneous syndrome [DO Concept]
- cardiofaciocutaneous syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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