Fraser Syndrome

Preferred Label : Fraser Syndrome;

NCIt synonyms : Cryptophthalmos-Syndactyly Syndrome;

NCIt definition : A rare, autosomal recessive inherited disorder caused by mutations in the FRAS1, FREM2, or GRIP1 genes. It is characterized by the presence of cryptophthalmos, cutaneous syndactyly, and genitourinary abnormalities.;

NCI Metathesaurus CUI : CL479890;

Details

Origin ID

C118436;

UMLS CUI

C0265233;

Automatic exact mappings (from CISMeF team)
- Fraser syndrome [ICD-11 Subcategory]
- Fraser syndrome [MedDRA Preferred Term]
- Fraser syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Cryptophthalmos syndrome (disorder) [SNOMED CT concept]
- Fraser syndrome [ORDO Disease]
- Fraser syndrome [DO Concept]
- Fraser syndrome [Disease (Nov.)]
- Fraser syndrome (disorder) [Inactive SNOMED CT concept]
- Fraser syndrome 1 [OMIM Phenotype]
- fraser syndrome [MeSH concept]
- fraser syndrome [MeSH Descriptor]
- fraser syndrome [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cryptophthalmos syndrome (disorder) [SNOMED CT concept]
- Fraser syndrome [ORDO Disease]
- Fraser syndrome [DO Concept]
- Fraser syndrome [Disease (Nov.)]
- Fraser syndrome [MedDRA Preferred Term]
- Fraser syndrome 1 [OMIM Phenotype]
- fraser syndrome [SNOMED Notion]
- fraser syndrome [MeSH Descriptor]
- fraser syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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