Megalencephaly

Preferred Label : Megalencephaly;

MeSH definition : A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).;

MeSH synonym : macrocephalies; Megalencephalies; Megalocephaly; Megalocephalies; Macrocephaly; Megacephaly; Megacephalies;

Wikipedia link : https://en.wikipedia.org/wiki/Macrocephaly;

Details

Origin ID

D058627;

UMLS CUI

C0221355;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
CISMeF manual mappings
- Megalencephaly [ICD-10 Sub-category (who)]
- Megalencephaly [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Macrocephaly [ICD-10 Sub-category]
- Macrocephaly [PASCAL descriptor]
- Macrocephaly [ICD-11 Subcategory]
- Macrocephaly [ICD-10 Sub-category (who)]
- Macrocephaly [HPO term]
- Macrocephaly [MedDRA Preferred Term]
- Macrocephaly [NCIt concept]
- Macrocephaly (disorder) [SNOMED CT concept]
- Macrocephaly NOS [MedDRA LLT]
- Macrocephaly/megalencephaly syndrome, autosomal recessive [OMIM Phenotype]
- Macroencephaly (disorder) [SNOMED CT concept]
- Megalencephaly [PASCAL descriptor]
- Megalencephaly [HRDO Sign]
- Megalencephaly [HPO term]
- Megalencephaly [ORDO Disease]
- Megalencephaly [ICD-11 Subcategory]
- Megalencephaly, autosomal dominant [OMIM Phenotype]
- macrocephaly [Disease (Nov.)]
- macrocephaly [SNOMED Notion]
- macroencephaly [SNOMED Notion]
- megalencephaly [Disease (Nov.)]
HPO term
- Megalencephaly [HPO term]
Manual NTBT mappings (CISMeF)
- abnormal head size [Disease (Nov.)]
Record concept(s)
- Megalencephaly [MeSH concept]
Related MeSH Supplementary Concept(s)
- Ehlers-Danlos syndrome VI phenotype with macrocephaly [MeSH Supplementary Concept]
- bagatelle cassidy syndrome [MeSH Supplementary Concept]
- chromosome 1q21.1 deletion syndrome, 1.35-Mb [MeSH Supplementary Concept]
- facial abnormalities, kyphoscoliosis, and mental retardation [MeSH Supplementary Concept]
- fryns macrocephaly [MeSH Supplementary Concept]
- kniest like dysplasia lethal [MeSH Supplementary Concept]
- macrocephaly autism syndrome [MeSH Supplementary Concept]
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies [MeSH Supplementary Concept]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH Supplementary Concept]
- macrocephaly, benign familial [MeSH Supplementary Concept]
- macrosomia obesity macrocephaly ocular abnormalities [MeSH Supplementary Concept]
- megalencephaly cutis marmorata telangiectatica congenita [MeSH Supplementary Concept]
- megalencephaly with dysmyelination [MeSH Supplementary Concept]
- mental retardation, X-Linked 93 [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, turner type [MeSH Supplementary Concept]
- mental retardation, macrocephaly, short stature and craniofacial dysmorphism [MeSH Supplementary Concept]
- neuhauser syndrome [MeSH Supplementary Concept]
- pectus excavatum, macrocephaly, short stature, dysplastic nails [MeSH Supplementary Concept]
- polyhydramnios, megalencephaly, and symptomatic epilepsy [MeSH Supplementary Concept]
- vater association with hydrocephalus [MeSH Supplementary Concept]
- zori stalker williams syndrome [MeSH Supplementary Concept]
See also
- cerebral ventriculitis [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
See also inter- (CISMeF)
- Macrocephaly (finding) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated megalencephaly [ORDO Disease]
- Large head (disorder) [SNOMED CT concept]
- Macrocephaly [ICD-10 Sub-category (who)]
- Macrocephaly [MedDRA Preferred Term]
- Macrocephaly [NCIt concept]
- Macrocephaly [ICD-10 Sub-category]
- Macrocephaly (disorder) [SNOMED CT concept]
- Macrocephaly NOS [MedDRA LLT]
- Megalencephaly [HPO term]
- Megalencephaly [MedDRA Preferred Term]
- macrocephaly [SNOMED Notion]

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