Macroglossia - CISMeF

Preferred Label : Macroglossia;

Type : Phenotype or locus, molecular basis unknown;

Description : Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650).;

Inheritance : Autosomal dominant;

Prefixed ID : %153630;

Details

Origin ID

153630;

UMLS CUI

C0024421;

Automatic exact mappings (from CISMeF team)
- Macroglossia [ACR pathology]
- mouth/tongue/lip symptom/complaint [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Congenital macroglossia [ORDO Disease]
- Congenital macroglossia [ICD-11 Subcategory]
- Congenital macroglossia [MeSH concept]
- Congenital macroglossia [MedDRA LLT]
- Congenital macroglossia (disorder) [SNOMED CT concept]
- Enlargement of tongue (disorder) [SNOMED CT concept]
- Macroglossia [PASCAL descriptor]
- Macroglossia [ICD-10 Sub-category]
- Macroglossia [ICD-11 Subcategory]
- Macroglossia [ICD-10 Sub-category (who)]
- Macroglossia [HPO term]
- Macroglossia [MedDRA Preferred Term]
- Macroglossia [NCIt concept]
- Macroglossia [ORDO Disease]
- Macroglossia [ICD-9 code]
- congenital macroglossia [MeSH Supplementary Concept]
- macroglossia [MeSH Descriptor]
- macroglossia [MeSH concept]
- macroglossia [SNOMED Notion]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Macroglossia [HPO term]
ORDO concept(s)
- Congenital macroglossia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Enlargement of tongue (disorder) [SNOMED CT concept]
- Macroglossia [HPO term]
- Macroglossia [NCIt concept]
- enlargement of tongue [SNOMED Notion]
- macroglossia [MeSH Descriptor]
- macroglossia [MeSH concept]

Keyword's position in hierarchy(ies) :

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