sotos' syndrome

Preferred Label : sotos' syndrome;

Détails

Origin ID

D4-00505;

UMLS CUI

C0175695;

Automatic exact mappings (from CISMeF team)
- Cerebral gigantism [MedDRA LLT]
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
- Kearns-Sayre syndrome [MeSH Descriptor]
- Meigs Syndrome [NCIt concept]
- Meyenburg-Altherr-Uehlinger syndrome [MeSH Supplementary Concept]
- Sotos syndrome [OMIM phenotypic series]
- Syndrome [NCIt concept]
- achalasia addisonianism alacrimia syndrome [MeSH Supplementary Concept]
- diffuse cerebral sclerosis of schilder [MeSH Descriptor]
- down syndrome [MeSH Descriptor]
- hhhh syndrome [MeSH concept]
- hhhh syndrome [MeSH Supplementary Concept]
- isaacs syndrome [MeSH Descriptor]
- meigs syndrome [MeSH Descriptor]
- proud syndrome [MeSH concept]
- proud syndrome [MeSH Supplementary Concept]
- say syndrome [MeSH Supplementary Concept]
- syndrome [MeSH Descriptor]
- syndrome [MeSH concept]
- wells syndrome [MeSH Supplementary Concept]
- young syndrome [MeSH Supplementary Concept]
CISMeF manual mappings
- sotos syndrome [MeSH Descriptor]
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 [ORDO Disease]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- sotos syndrome [MeSH concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
- Isolated cases [HPO term]
- Prominent jaw [HPO term]
ICD-10 exact mapping(s)
- Congenital malformation syndromes involving early overgrowth [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Cerebral disease with cataract [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Overgrowth syndrome [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Sotos' syndrome (disorder) [SNOMED CT concept]
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 [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]

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