Perlman Syndrome

Preferred Label : Perlman Syndrome;

NCIt synonyms : Renal Hamartomas, Nephroblastomatosis and Fetal Gigantism;

NCIt definition : A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor.;

Details

Origin ID

C103144;

UMLS CUI

C0796113;

Currated CISMeF NLP mapping
- Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor [MeSH concept]
- Perlman syndrome [OMIM Phenotype]
- Perlman syndrome [ORDO Disease]
- Perlman syndrome [DO Concept]
- Perlman syndrome [ICD-11 More detail]
- Perlman syndrome (disorder) [SNOMED CT concept]
- nephroblastomatosis, fetal ascites, macrosomia and wilms tumor [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor [MeSH concept]
- Perlman syndrome [OMIM Phenotype]
- Perlman syndrome [ORDO Disease]
- Perlman syndrome [DO Concept]
- Perlman syndrome [ICD-11 More detail]
- Perlman syndrome [MedDRA Preferred Term]
- Perlman syndrome (disorder) [SNOMED CT concept]
- nephroblastomatosis, fetal ascites, macrosomia and wilms tumor [MeSH Supplementary Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- DIS3L2 Gene [NCIt concept]
related_to_genetic_biomarker
- DIS3L2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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