Hemihyperplasia, isolated

Preferred Label : Hemihyperplasia, isolated;

Symbol : IH;

CISMeF acronym : HHP; IH;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Hemihyperplasia; Hemihypertrophy, isolated; HHP;

Included titles and symbols : Hemi-3 syndrome;

Description : Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (194070) (Shuman et al., 2006). Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (133900). Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006).;

Inheritance : Autosomal dominant;

Neoplasia : Increased risk for embryonal tumors; Increased risk for Wilms tumor;

Prefixed ID : %235000;

Details

Origin ID

235000;

UMLS CUI

C1856184;

Automatic exact mappings (from CISMeF team)
- Immediate hypersensitivity [MedDRA LLT]
- Inhaler Dosing Unit [NCIt concept]
- Intrahepatic Route of Administration [NCIt concept]
- hypersensitivity, immediate [MeSH Descriptor]
- hypersensitivity, immediate [MeSH concept]
- immediate hypersensitivity, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- HEMIHYPERTROPHY [WHO-ART Preferred Term]
- Hemihypertrophy [PASCAL descriptor]
- Hemihypertrophy [ICD-11 More detail]
- Hemihypertrophy [NCIt concept]
- Hemihypertrophy [MedDRA Preferred Term]
- Hemihypertrophy [HPO term]
- Isolated hemihyperplasia [ORDO Disease]
- hemihyperplasia, isolated [MeSH concept]
- hemihyperplasia, isolated [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Embryonal neoplasm [HPO term]
- Hemihypertrophy [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability, mild [HPO term]
- Myelomeningocele [HPO term]
- Nephroblastoma [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle hypertrophy [HPO term]
ORDO concept(s)
- Isolated hemihyperplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hemihyperplasia, isolated [MeSH Supplementary Concept]
- hemihyperplasia, isolated [MeSH concept]

Keyword's position in hierarchy(ies) :

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