sotos syndrome

Preferred Label : sotos syndrome;

MeSH definition : Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.;

MeSH synonym : syndrome, sotos; cerebral gigantism; cerebral gigantisms; gigantism, cerebral; gigantisms, cerebral; sotos sequence; sequence, sotos; sotos' syndrome; soto syndrome; soto's syndrome; syndrome, sotos';

CISMeF synonym : sotos's syndrome; Sotos;

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

Details

Origin ID

D058495;

UMLS CUI

C0175695;

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)
- Cerebral gigantism [MedDRA LLT]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
- Sotos syndrome [OMIM phenotypic series]
CISMeF manual mappings
- Sotos syndrome [ORDO Disease]
- sotos' syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Cerebral gigantism [PASCAL descriptor]
- Sotos Syndrome [NCIt concept]
- Sotos syndrome [DO Concept]
- Sotos syndrome [ICD-11 More detail]
- Sotos syndrome [OMIM Phenotype]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Sotos syndrome [DO Concept]
False automatic mappings
- NSD1 wt Allele [NCIt concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
- Isolated cases [HPO term]
- Prominent jaw [HPO term]
Indexing information
- NSD1 protein, human [MeSH Supplementary Concept]
ORDO relation(s)
- Sotos syndrome [ORDO Disease]
Record concept(s)
- sotos syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- nevo syndrome [MeSH Supplementary Concept]
See also
- fetal macrosomia [MeSH Descriptor]
- gigantism [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral gigantism [MedDRA LLT]
- Cerebral gigantism [PASCAL descriptor]
- Sotos Syndrome [NCIt concept]
- Sotos syndrome [OMIM Phenotype]
- Sotos syndrome [ORDO Disease]
- Sotos syndrome [DO Concept]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- sotos' syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Cerebral gigantism [MedDRA LLT]
- Cerebral gigantism [ACR pathology]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
Validated automatic mappings to NTBT
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]

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