hypertelorism - CISMeF

Preferred Label : hypertelorism;

MeSH definition : Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.;

MeSH synonym : hypertelorisms;

MeSH annotation : a form of craniofacial dysostosis; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

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

Details

Origin ID

D006972;

UMLS CUI

C0020534;

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]
Currated CISMeF NLP mapping
- Hypertelorism [ICD-10 Sub-category]
- Hypertelorism [PASCAL descriptor]
- Hypertelorism [HRDO Sign]
- Hypertelorism [ICD-10 Sub-category (who)]
- Hypertelorism [ICD-11 Subcategory]
- Hypertelorism [HPO term]
- Hypertelorism [NCIt concept]
- Hypertelorism [OMIM Phenotype]
- Hypertelorism [MedDRA LLT]
- Hypertelorism (disorder) [SNOMED CT concept]
- Hypertelorism of orbit [MedDRA Preferred Term]
- hypertelorism [Disease (Nov.)]
- ocular hypertelorism [SNOMED Notion]
HPO term
- Hypertelorism [HPO term]
Manual NTBT mappings (CISMeF)
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy [ORDO Disease]
- Syndrome with limb malformations as a major feature [ORDO Disease]
Record concept(s)
- hypertelorism [MeSH concept]
Related MeSH Supplementary Concept(s)
- Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [MeSH Supplementary Concept]
- Naguib-Richieri-Costa syndrome [MeSH Supplementary Concept]
- Schwartz-Lelek syndrome [MeSH Supplementary Concept]
- Snijders Blok-Campeau syndrome [MeSH Supplementary Concept]
- acrootoocular syndrome [MeSH Supplementary Concept]
- atrial septal defect, secundum, with various cardiac and noncardiac defects [MeSH Supplementary Concept]
- bagatelle cassidy syndrome [MeSH Supplementary Concept]
- barber say syndrome [MeSH Supplementary Concept]
- camptodactyly syndrome, guadalajara, type III [MeSH Supplementary Concept]
- chromosome 6pter-P24 deletion syndrome [MeSH Supplementary Concept]
- de hauwere leroy adriaenssens syndrome [MeSH Supplementary Concept]
- facial abnormalities, kyphoscoliosis, and mental retardation [MeSH Supplementary Concept]
- gastrocutaneous syndrome [MeSH Supplementary Concept]
- hirschsprung disease with polydactyly, renal agenesis, and deafness [MeSH Supplementary Concept]
- hypertelorism and tetralogy of fallot [MeSH Supplementary Concept]
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]
- hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility [MeSH Supplementary Concept]
- hypospadias, hypertelorism, upper lid coloboma, and Mixed-Type hearing loss [MeSH Supplementary Concept]
- krauss herman holmes syndrome [MeSH Supplementary Concept]
- marles greenberg persaud syndrome [MeSH Supplementary Concept]
- opitz GBBB syndrome, X-Linked [MeSH Supplementary Concept]
- polycystic kidney disease, potter type I, with microbrachycephaly, hypertelorism, and brachymelia [MeSH Supplementary Concept]
- rasmussen johnsen thomsen syndrome [MeSH Supplementary Concept]
- roberts syndrome [MeSH Supplementary Concept]
- santos mateus leal syndrome [MeSH Supplementary Concept]
- seaver cassidy syndrome [MeSH Supplementary Concept]
- toe syndactyly, telecanthus, and anogenital and renal malformations [MeSH Supplementary Concept]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Hypertelorism [OMIM Phenotype]
- Hypertelorism [ICD-10 Sub-category]
- Hypertelorism [HPO term]
- Hypertelorism [ICD-10 Sub-category (who)]
- Hypertelorism [HRDO Sign]
- Hypertelorism [PASCAL descriptor]
- Hypertelorism [ICD-11 Subcategory]
- Hypertelorism [MedDRA Preferred Term]
- Hypertelorism [NCIt concept]
- Hypertelorism [MedDRA LLT]
- Hypertelorism (disorder) [SNOMED CT concept]
- Hypertelorism of orbit [MedDRA Preferred Term]
- Hypertelorism of orbit [ICD-9 code]
- Hypertelorism of orbit [MedDRA LLT]
- Hypertelorism of orbit (disorder) [Inactive SNOMED CT concept]
- hypertelorism [Disease (Nov.)]
- ocular hypertelorism [SNOMED Notion]

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