Sotos Syndrome

Preferred Label : Sotos Syndrome;

NCIt related terms : Cerebral Gigantism Syndrome; Sotos' Syndrome;

NCIt definition : An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay.;

Détails

Origin ID

C75019;

UMLS CUI

C0175695;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category]
- Sotos syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Cerebral gigantism [PASCAL descriptor]
- Sotos syndrome [DO Concept]
- Sotos syndrome [ICD-11 More detail]
- Sotos syndrome [OMIM Phenotype]
- Sotos syndrome [ORDO Disease]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- sotos syndrome [MeSH Descriptor]
- sotos syndrome [MeSH concept]
- sotos' syndrome [SNOMED Notion]
DO Cross reference
- Sotos syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral gigantism [MedDRA LLT]
- Cerebral gigantism [PASCAL descriptor]
- Sotos syndrome [ORDO Disease]
- Sotos syndrome [OMIM Phenotype]
- Sotos syndrome [DO Concept]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- sotos syndrome [MeSH concept]
- sotos syndrome [MeSH Descriptor]
- sotos' syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Histone-Lysine N-Methyltransferase, H3 Lysine-36 and H4 Lysine-20 Specific [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_gene
- NSD1 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NFIX Gene [NCIt concept]
- NSD1 Gene [NCIt concept]
related_to_genetic_biomarker
- NSD1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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