Noonan Syndrome-Like Disorder

Preferred Label : Noonan Syndrome-Like Disorder;

NCIt synonyms : CBL Noonan Syndrome; CBL Syndrome;

NCIt definition : A syndrome caused by germline mutations in the CBL gene. It manifests with clinical features resembling Noonan syndrome (developmental delay, craniofacial abnormalities, and congenital heart defects). It is associated with an increased risk of developing juvenile myelomonocytic leukemia.;

NCI Metathesaurus CUI : CL1905839;

Details

Origin ID

C198681;

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]
disease_has_associated_disease
- Congenital Heart Disease [NCIt concept]
- Developmental Delay [NCIt concept]
disease_has_associated_disease
- Juvenile Myelomonocytic Leukemia Associated with Noonan Syndrome-Like Disorder [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- CBL Gene Mutation [NCIt concept]
disease_mapped_to_gene
- CBL Gene [NCIt concept]
disease_may_have_associated_disease
- Juvenile Myelomonocytic Leukemia Associated with Noonan Syndrome-Like Disorder [NCIt concept]
pathogenesis_of_disease_involves_gene
- CBL Gene [NCIt concept]
- CBL wt Allele [NCIt concept]

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