Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia

Preferred Label : Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia;

NCIt synonyms : CBL Syndrome; NSLL; CBL Mutation-Associated Syndrome;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the CBL gene, encoding E3 ubiquitin-protein ligase CBL. The condition resembles Noonan syndrome 1 and is characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Affected individuals may have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia.;

Détails

Origin ID

C176942;

UMLS CUI

C3150803;

Currated CISMeF NLP mapping
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [ORDO Disease]
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder) [SNOMED CT concept]
- Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia [OMIM Phenotype]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- CBL Gene [NCIt concept]
related_to_genetic_biomarker
- CBL Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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