Hemifacial myohyperplasia

Preferred Label : Hemifacial myohyperplasia;

Symbol : HFMH;

CISMeF acronym : HMH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HMH;

Prefixed ID : #606773;

Details

Origin ID

606773;

UMLS CUI

C1847521;

Automatic exact mappings (from CISMeF team)
- Liver Mesenchymal Hamartoma [NCIt concept]
Currated CISMeF NLP mapping
- Hemifacial myohyperplasia [ICD-11 More detail]
- Hemifacial myohyperplasia [MeSH concept]
- Hemifacial myohyperplasia [ORDO Disease]
- Hemifacial myohyperplasia (disorder) [SNOMED CT concept]
- hemifacial myohyperplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
ORDO concept(s)
- Hemifacial myohyperplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hemifacial myohyperplasia [ORDO Disease]
- Hemifacial myohyperplasia [MeSH concept]
- Hemifacial myohyperplasia (disorder) [SNOMED CT concept]
- hemifacial myohyperplasia [MeSH Supplementary Concept]

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