fryns syndrome

Preferred Label : fryns syndrome;

MeSH synonym : moerman van den berghe fryns syndrome; diaphragmatic hernia, abnormal face, and distal limb anomalies;

Details

Origin ID

C538070;

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]
- Nephrotic Syndrome - Frequently Relapsing [NCIt concept]
Currated CISMeF NLP mapping
- Fryns Syndrome [NCIt concept]
- Fryns syndrome [OMIM Phenotype]
- Fryns syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- facies [MeSH Descriptor]
- hernia, diaphragmatic [MeSH Descriptor]
- hernia, diaphragmatic [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
ORDO relation(s)
- Fryns syndrome [ORDO Disease]
Record concept(s)
- Fryns syndrome [MeSH 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 [NCIt concept]
- Fryns syndrome [ORDO Disease]
- Fryns syndrome [OMIM Phenotype]
- Fryns syndrome [MedDRA Preferred Term]

Keyword's position in hierarchy(ies) :

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