Noonan Syndrome 1

Preferred Label : Noonan Syndrome 1;

NCIt definition : Noonan syndrome caused by mutations in the PTPN11 gene.;

NCI Metathesaurus CUI : CL448939;

Details

Origin ID

C75459;

UMLS CUI

C4551602;

Automatic exact mappings (from CISMeF team)
- Noonan Syndrome 1 [MeSH concept]
Currated CISMeF NLP mapping
- Noonan syndrome 1 [DO Concept]
- Noonan syndrome 1 [OMIM Phenotype]
See also inter- (CISMeF)
- NS-1 [MeSH concept]
- Noonan like syndrome [MeSH concept]
- Turner's phenotype, karyotype normal (disorder) [SNOMED CT concept]
- female Pseudo-Turner syndrome [MeSH concept]
- noonan like syndrome [MeSH Supplementary Concept]
- turner syndrome, male [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome 1 [OMIM Phenotype]
- Noonan syndrome 1 [DO Concept]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- Noonan syndrome [PASCAL descriptor]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [DO Concept]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- noonan syndrome [MeSH concept]
- noonan syndrome [SNOMED Notion]
- noonan syndrome [MeSH Descriptor]
disease_mapped_to_gene
- PTPN11 Gene [NCIt concept]
related_to_genetic_biomarker
- PTPN11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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