noonan syndrome

Preferred Label : noonan syndrome;

MeSH definition : A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.; A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.;

MeSH synonym : turner phenotype with normal karyotype; Noonan-Ehmke syndrome; noonan ehmke syndrome; Pseudo-Ullrich-Turner syndrome; pseudo ullrich turner syndrome; turner's phenotype, karyotype normal; Turner-Like syndrome; turner like syndrome; Ullrich-Noonan syndrome; ullrich noonan syndrome; familial turner syndrome; turner syndrome, familial;

CISMeF synonym : Noonan; female pseudo-turner syndromes; pseudo-turner syndromes, female; syndromes, female pseudo-turner; noonan's syndrome; male turner syndromes; syndromes, male turner; turner syndromes, male; turners syndrome, male; Syndrome, Noonan; noonan syndrome 1; syndrome, Noonan-Ehmke; syndrome, Pseudo-Ullrich-Turner; syndrome, Turner-Like; syndrome, Ullrich-Noonan; syndrome, familial turner;

MeSH hyponym : turner syndrome, male; female Pseudo-Turner syndrome; Female Pseudo Turner Syndrome; Pseudo-Turner Syndrome, Female; Syndrome, Female Pseudo-Turner; Syndrome, Male Turner; Turner's Syndrome, Male; Male Turner's Syndrome; Syndrome, Male Turner's; Male Turner Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Noonan syndrome;

Details

Origin ID

D009634;

UMLS CUI

C0028326;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Turner Syndrome [NCIt concept]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome (disorder) [SNOMED CT concept]
- turner syndrome [MedlinePlus Topic]
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 [PASCAL descriptor]
- Noonan syndrome [DO Concept]
- Noonan syndrome [Disease (Nov.)]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [ICD-11 Sub-sub category]
- Noonan syndrome [OMIM phenotypic series]
- Noonan syndrome [ACR pathology]
- Noonan syndrome [ACR pathology]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome 1 [OMIM Phenotype]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- Turner's phenotype, karyotype normal (disorder) [SNOMED CT concept]
- noonan syndrome [SNOMED Notion]
DO Cross reference
- Noonan syndrome [DO Concept]
False automatic mappings
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner syndrome [ORDO Disease]
- Turner's syndrome [MedDRA Preferred Term]
- Turners syndrome [ICD-10 category (who)]
- Turners syndrome, unspecified [ICD-10 Sub-category (who)]
- turner syndrome, nos [SNOMED Notion]
Manual BTNT mappings - CISMeF
- Monosomy X [ORDO Disease]
- Mosaic monosomy X [ORDO Disease]
- Turner syndrome due to structural X chromosome anomalies [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with cataract [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Gonadal dysgenesis of gynecological interest [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Noonan syndrome and Noonan-related syndrome [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare endocrine growth disease [ORDO Disease]
- Rare female infertility [ORDO Disease]
- Sex-chromosome number anomaly [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
- Syndromic lymphedema [ORDO Disease]
- Syndromic outer canthal malposition [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
Ne pas confondre avec
- short rib-polydactyly syndrome [MeSH Descriptor]
ORDO relation(s)
- Noonan syndrome [ORDO Disease]
Record concept(s)
- Noonan Syndrome 1 [MeSH concept]
- female Pseudo-Turner syndrome [MeSH concept]
- noonan syndrome [MeSH concept]
- turner syndrome, male [MeSH concept]
Related MeSH Supplementary Concept(s)
- Neurofibromatosis-Noonan syndrome [MeSH Supplementary Concept]
- Noonan-Like syndrome with loose anagen hair [MeSH Supplementary Concept]
- kousseff nichols syndrome [MeSH Supplementary Concept]
- noonan like syndrome [MeSH Supplementary Concept]
- noonan syndrome 2 [MeSH Supplementary Concept]
- noonan syndrome 3 [MeSH Supplementary Concept]
- noonan syndrome 4 [MeSH Supplementary Concept]
- noonan syndrome 5 [MeSH Supplementary Concept]
- noonan syndrome 6 [MeSH Supplementary Concept]
See also
- LEOPARD syndrome [MeSH Descriptor]
- costello syndrome [MeSH Descriptor]
- neurofibromatosis 1 [MeSH Descriptor]
- turner syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome [NCIt concept]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [DO Concept]
- Noonan syndrome [Disease (Nov.)]
- Noonan syndrome 1 [OMIM Phenotype]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- Turner's phenotype, karyotype normal (disorder) [SNOMED CT concept]
- noonan syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Noonan Syndrome 1 [NCIt concept]
- Noonan syndrome 1 [DO Concept]

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