Perlman syndrome

Preferred Label : Perlman syndrome;

ICD-11 definition : Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.;

ICD-11 synonym : Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumour;

Details

Origin ID

795682441;

UMLS CUI

C0796113;

Currated CISMeF NLP mapping
- Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor [MeSH concept]
- Perlman Syndrome [NCIt concept]
- Perlman syndrome [ORDO Disease]
- Perlman syndrome [DO Concept]
- Perlman syndrome [OMIM Phenotype]
- 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 [NCIt concept]
- Perlman syndrome [DO Concept]
- Perlman syndrome [OMIM Phenotype]
- Perlman syndrome [ORDO Disease]
- Perlman syndrome [MedDRA Preferred Term]
- Perlman syndrome (disorder) [SNOMED CT concept]
- nephroblastomatosis, fetal ascites, macrosomia and wilms tumor [MeSH Supplementary Concept]

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