brachydactyly - CISMeF

Preferred Label : brachydactyly;

MeSH definition : Congenital anomaly of abnormally short fingers or toes.;

MeSH synonym : brachydactylies; brachydactylism; brachydactylisms; brachydactylia; brachydactylias;

MeSH annotation : coordinate IM with FINGERS / abnorm (IM) or TOES / abnorm (IM);

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

Details

Origin ID

D059327;

UMLS CUI

C0221357;

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
- Brachydactyly [MedDRA Preferred Term]
- Brachydactyly [PASCAL descriptor]
- Brachydactyly [ICD-11 Category]
- Brachydactyly [HPO term]
- Brachydactyly [ORDO Disease]
- Brachydactyly (disorder) [SNOMED CT concept]
- Brachydactyly group [ORDO Disease]
- brachydactyly [DO Concept]
- brachydactyly [Disease (Nov.)]
- brachydactyly [SNOMED Notion]
DO Cross reference
- brachydactyly [DO Concept]
HPO term
- Brachydactyly [HPO term]
Record concept(s)
- brachydactyly [MeSH concept]
Related MeSH Supplementary Concept(s)
- Berk-Tabatznik syndrome [MeSH Supplementary Concept]
- Brachydactyly-Nystagmus-Cerebellar ataxia [MeSH Supplementary Concept]
- Brachydactyly-Syndactyly syndrome [MeSH Supplementary Concept]
- Fitzsimmons-Guilbert syndrome [MeSH Supplementary Concept]
- GOMBO syndrome [MeSH Supplementary Concept]
- Ulnar-Fibular Ray Defect and Brachydactyly [MeSH Supplementary Concept]
- acrocapitofemoral dysplasia [MeSH Supplementary Concept]
- anonychia-onychodystrophy with brachydactyly type B and ectrodactyly [MeSH Supplementary Concept]
- arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly [MeSH Supplementary Concept]
- bork stender schmidt syndrome [MeSH Supplementary Concept]
- brachydactyly preaxial with hallux varus and thumb abduction [MeSH Supplementary Concept]
- brachydactyly type A1 [MeSH Supplementary Concept]
- brachydactyly type A2 [MeSH Supplementary Concept]
- brachydactyly type A3 [MeSH Supplementary Concept]
- brachydactyly type A5 nail dysplasia [MeSH Supplementary Concept]
- brachydactyly type A6 [MeSH Supplementary Concept]
- brachydactyly type C [MeSH Supplementary Concept]
- brachydactyly types B and E combined [MeSH Supplementary Concept]
- brachydactyly with hypertension [MeSH Supplementary Concept]
- brachydactyly, Long-Thumb type [MeSH Supplementary Concept]
- brachydactyly, coloboma, and anterior segment dysgenesis [MeSH Supplementary Concept]
- brachydactyly, intraventricular septal defect, and deafness [MeSH Supplementary Concept]
- brachydactyly, type A1, B [MeSH Supplementary Concept]
- brachydactyly, type A2, with microcephaly [MeSH Supplementary Concept]
- brachydactyly, type B1 [MeSH Supplementary Concept]
- brachydactyly, type D [MeSH Supplementary Concept]
- brachydactyly, type E [MeSH Supplementary Concept]
- brachydactyly, type E, with atrial septal defect, type ii [MeSH Supplementary Concept]
- brachymesophalangy 2 and 5 [MeSH Supplementary Concept]
- cleidocranial dysplasia, forme fruste, with brachydactyly [MeSH Supplementary Concept]
- coloboma of macula and skeletal anomalies [MeSH Supplementary Concept]
- coloboma of macula type B brachydactyly [MeSH Supplementary Concept]
- cryptomicrotia brachydactyly syndrome [MeSH Supplementary Concept]
- digital Arthropathy-Brachydactyly, familial [MeSH Supplementary Concept]
- exostoses with anetodermia and brachydactyly, type E [MeSH Supplementary Concept]
- fibular aplasia ectrodactyly [MeSH Supplementary Concept]
- fibular hypoplasia and complex brachydactyly [MeSH Supplementary Concept]
- heart-hand syndrome, spanish type [MeSH Supplementary Concept]
- hirschsprung disease type d brachydactyly [MeSH Supplementary Concept]
- metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [MeSH Supplementary Concept]
- prolonged bleeding time, brachydactyly, and mental retardation [MeSH Supplementary Concept]
- robin sequence with distinctive facial appearance and brachydactyly [MeSH Supplementary Concept]
- short stature, facial dysmorphism, severe brachydactyly, and syndactyly [MeSH Supplementary Concept]
- sillence syndrome [MeSH Supplementary Concept]
- spondyloepiphyseal Dysplasia-Brachydactyly and distinctive speech [MeSH Supplementary Concept]
- synostosis, carpal, with dysplastic elbow joints and brachydactyly [MeSH Supplementary Concept]
- temtamy preaxial brachydactyly syndrome [MeSH Supplementary Concept]
- thumbs, stiff, with brachydactyly type A1 and developmental delay [MeSH Supplementary Concept]
- tonoki syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly [MedDRA Preferred Term]
- Brachydactyly [HPO term]
- Brachydactyly [ORDO Disease]
- Brachydactyly (disorder) [SNOMED CT concept]
- Brachydactyly group [ORDO Disease]
- Dysostosis with brachydactyly [ORDO Disease]
- brachydactyly [SNOMED Notion]
- brachydactyly [DO Concept]
- brachydactyly [Disease (Nov.)]
Validated automatic mappings to BTNT
- Short 2nd toe [HPO term]
- Short toe [HPO term]
- Type A brachydactyly [HPO term]
Validated automatic mappings to NTBT
- Dysostosis with brachydactyly [ORDO Disease]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients