Fryns Syndrome

Preferred Label : Fryns Syndrome;

NCIt definition : A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations.;

Details

Origin ID

C98932;

UMLS CUI

C0220730;

Automatic exact mappings (from CISMeF team)
- Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) [SNOMED CT concept]
- Fryns syndrome [PASCAL descriptor]
- Fryns syndrome [MedDRA Preferred Term]
- Fryns syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Fryns syndrome [ORDO Disease]
- Fryns syndrome [MeSH concept]
- Fryns syndrome [OMIM Phenotype]
- fryns syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) [SNOMED CT concept]
- Fryns syndrome [ORDO Disease]
- Fryns syndrome [MeSH concept]
- Fryns syndrome [OMIM Phenotype]
- Fryns syndrome [MedDRA Preferred Term]
- fryns syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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