Noonan syndrome

ICD-11 code : LD2F.15;

Preferred Label : Noonan syndrome;

ICD-11 definition : Noonan Syndrome is characterised by short stature, facial dysmorphism and congenital heart defects. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasia. The syndrome is transmitted as an autosomal dominant trait.;

Details

Origin ID

1044395354;

UMLS CUI

C0347915;

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]
- Noonan Syndrome [NCIt concept]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [DO Concept]
- Noonan syndrome [PASCAL descriptor]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome [OMIM phenotypic series]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- noonan syndrome [MeSH concept]
- noonan syndrome [SNOMED Notion]
- noonan syndrome [MeSH Descriptor]
ICD-10 Mapping
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malformation syndromes associated with short stature (disorder) [SNOMED CT concept]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
Validated automatic mappings to BTNT
- Noonan syndrome 1 [OMIM Phenotype]

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