noonan syndrome - CISMeF

CISMeF

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Noonan syndromeSNOMED Notion

Preferred Label : noonan syndrome;

Details

Origin ID

D4-00302;

UMLS CUI

C0028326;

Currated CISMeF NLP mapping
- Congenital malformation syndromes associated with short stature (disorder) [SNOMED CT concept]
- 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 [NCIt concept]
- Noonan like syndrome [MeSH concept]
- Noonan syndrome [PASCAL descriptor]
- Noonan syndrome [DO Concept]
- Noonan syndrome [Disease (Nov.)]
- Noonan syndrome [ICD-11 Sub-sub category]
- Noonan syndrome [OMIM phenotypic series]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome 1 [OMIM Phenotype]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- noonan like syndrome [MeSH Supplementary Concept]
- noonan syndrome [MeSH Descriptor]
- noonan syndrome [MeSH concept]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with cataract [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Noonan syndrome and Noonan-related syndrome [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic lymphedema [ORDO Disease]
- Syndromic outer canthal malposition [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome [NCIt concept]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome [Disease (Nov.)]
- Noonan syndrome [DO Concept]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome 1 [OMIM Phenotype]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- Turner's phenotype, karyotype normal (disorder) [SNOMED CT concept]
- noonan syndrome [MeSH Descriptor]
- noonan syndrome [MeSH concept]
Validated automatic mappings to BTNT
- Noonan Syndrome 1 [NCIt concept]

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06/07/2025

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