limb deformities, congenital

Preferred Label : limb deformities, congenital;

MeSH definition : Congenital structural deformities of the upper and lower extremities collectively or unspecified.;

MeSH synonym : limb deformity, congenital; congenital limb deformities; congenital limb deformity; deformities, congenital limb; deformity, congenital limb;

MeSH annotation : general or unspecified; LOWER EXTREMITY DEFORMITIES, CONGENITAL and UPPER EXTREMITY DEFORMITIES, CONGENITAL are available as well as /abnorm with specifics treed under UPPER EXTREMITIES and LOWER EXTREMITIES; DF: LIMB DEFORMITIES CONGEN;

Details

Origin ID

D017880;

UMLS CUI

C0206762;

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]
Automatic exact mappings (from CISMeF team)
- Acquired deformity of limb, unspecified [ICD-10 Sub-category (who)]
- Congenital limb malformation NOS [MedDRA LLT]
- Deformity of limb (finding) [SNOMED CT concept]
- LIMB MALFORMATION [WHO-ART Preferred Term]
- Limb deformities NOS [MedDRA LLT]
- Limb deformity [MedDRA Preferred Term]
- Limb malformation [MedDRA Preferred Term]
- Limb malformation [MedDRA LLT]
- Limb malformation NOS [MedDRA LLT]
- Other acquired deformities of limbs [ICD-11 Category]
- Other acquired deformities of limbs [ICD-10 category (who)]
- Other congenital anomalies of limbs [ICD-9 code]
Currated CISMeF NLP mapping
- Congenital anomaly of limb (disorder) [SNOMED CT concept]
- Congenital deformities of limbs [ORDO Disease]
- Congenital limb anomaly NOS [MedDRA LLT]
- Congenital limb malformation [ORDO Disease]
- congenital anomaly of limb, nos [SNOMED Notion]
Manual BTNT mappings - CISMeF
- Non-syndromic limb malformation [ORDO Disease]
- Syndrome with limb malformations as a major feature [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Rare developmental defect during embryogenesis [ORDO Disease]
MeSH Descriptor(s) used for indexing
- extremities [MeSH Descriptor]
Record concept(s)
- limb deformities, congenital [MeSH concept]
Related MeSH Supplementary Concept(s)
- Aase Smith syndrome [MeSH Supplementary Concept]
- B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations [MeSH Supplementary Concept]
- Ectrodactyly-Polydactyly [MeSH Supplementary Concept]
- Freire-Maia odontotrichomelic syndrome [MeSH Supplementary Concept]
- Genee-Wiedemann syndrome [MeSH Supplementary Concept]
- Hypoglossia-Hypodactylia [MeSH Supplementary Concept]
- Krause-Kivlin syndrome [MeSH Supplementary Concept]
- Penttinen-Aula syndrome [MeSH Supplementary Concept]
- Robinow Syndrome [MeSH Supplementary Concept]
- Split-Hand and Split-Foot with hypodontia [MeSH Supplementary Concept]
- Split-Hand foot malformation 2 [MeSH Supplementary Concept]
- Split-Hand with obstructive uropathy, spina bifida, and diaphragmatic defects [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation 4 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation 5 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation 6 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation With Long Bone Deficiency 2 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation With Long Bone Deficiency 3 [MeSH Supplementary Concept]
- Split-hand-foot malformation with long bone deficiency [MeSH Supplementary Concept]
- Stratton-Parker syndrome [MeSH Supplementary Concept]
- VACTERL association [MeSH Supplementary Concept]
- abruzzo erickson syndrome [MeSH Supplementary Concept]
- acromegaloid facial appearance syndrome [MeSH Supplementary Concept]
- acromicric dysplasia [MeSH Supplementary Concept]
- acropectoral syndrome [MeSH Supplementary Concept]
- acropectorovertebral dysplasia, F-Form [MeSH Supplementary Concept]
- acrorenal syndrome recessive [MeSH Supplementary Concept]
- adams oliver syndrome [MeSH Supplementary Concept]
- arms, malformation of [MeSH Supplementary Concept]
- bagatelle cassidy syndrome [MeSH Supplementary Concept]
- brachymorphism-onychodysplasia-dysphalangism syndrome [MeSH Supplementary Concept]
- brachyolmia, recessive hobaek type [MeSH Supplementary Concept]
- calabro syndrome [MeSH Supplementary Concept]
- camptobrachydactyly [MeSH Supplementary Concept]
- cartwright nelson fryns syndrome [MeSH Supplementary Concept]
- cerebrorenodigital syndrome with limb malformations and triradiate acetabula [MeSH Supplementary Concept]
- chondrodysplasia, acromesomelic, with genital anomalies [MeSH Supplementary Concept]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH Supplementary Concept]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH Supplementary Concept]
- craniomicromelic syndrome [MeSH Supplementary Concept]
- diaphragmatic defects, limb deficiencies, and ossification defects of skull [MeSH Supplementary Concept]
- ectrodactyly [MeSH Supplementary Concept]
- faciocardiomelic dysplasia, lethal [MeSH Supplementary Concept]
- fetal akinesia syndrome, X-linked [MeSH Supplementary Concept]
- fryns syndrome [MeSH Supplementary Concept]
- grubben de cock borghgraef syndrome [MeSH Supplementary Concept]
- hand and foot deformity with flat facies [MeSH Supplementary Concept]
- hanhart syndrome [MeSH Supplementary Concept]
- heart defects limb shortening [MeSH Supplementary Concept]
- hypochondroplasia [MeSH Supplementary Concept]
- ichthyosis tapered fingers midline groove up [MeSH Supplementary Concept]
- kaplan plauchu fitch syndrome [MeSH Supplementary Concept]
- kaufman oculocerebrofacial syndrome [MeSH Supplementary Concept]
- kuster syndrome [MeSH Supplementary Concept]
- laryngeal atresia, encephalocele, and limb deformities [MeSH Supplementary Concept]
- le marec bracq picaud syndrome [MeSH Supplementary Concept]
- limb defects, distal transverse, with mental retardation and spasticity [MeSH Supplementary Concept]
- limb deficiencies, distal, with micrognathia [MeSH Supplementary Concept]
- limb-mammary syndrome [MeSH Supplementary Concept]
- lynch lee murday syndrome [MeSH Supplementary Concept]
- megalodactyly [MeSH Supplementary Concept]
- mental retardation spasticity ectrodactyly [MeSH Supplementary Concept]
- mesomelia-synostoses syndrome [MeSH Supplementary Concept]
- metaphyseal anadysplasia [MeSH Supplementary Concept]
- metaphyseal anadysplasia 1 [MeSH Supplementary Concept]
- metaphyseal anadysplasia 2 [MeSH Supplementary Concept]
- microphthalmia with cyst, bilateral facial clefts, and limb anomalies [MeSH Supplementary Concept]
- microphthalmia, syndromic 6 [MeSH Supplementary Concept]
- multiple epiphyseal dysplasia with robin phenotype [MeSH Supplementary Concept]
- multiple pterygium syndrome, X-Linked [MeSH Supplementary Concept]
- nephrosis deafness urinary tract digital malformation [MeSH Supplementary Concept]
- neu laxova syndrome [MeSH Supplementary Concept]
- nievergelt syndrome [MeSH Supplementary Concept]
- oculodigitoesophagoduodenal syndrome [MeSH Supplementary Concept]
- palant cleft palate syndrome [MeSH Supplementary Concept]
- pointer syndrome [MeSH Supplementary Concept]
- postaxial oligodactyly, tetramelic [MeSH Supplementary Concept]
- powell chandra saal syndrome [MeSH Supplementary Concept]
- propping zerres syndrome [MeSH Supplementary Concept]
- radial ray deficiency, X-Linked [MeSH Supplementary Concept]
- rapadilino syndrome [MeSH Supplementary Concept]
- reardon hall slaney syndrome [MeSH Supplementary Concept]
- renal dysplasia - limb defects syndrome [MeSH Supplementary Concept]
- robinow syndrome, autosomal recessive [MeSH Supplementary Concept]
- ruzicka goerz anton syndrome [MeSH Supplementary Concept]
- short Stature-Obesity syndrome [MeSH Supplementary Concept]
- splenogonadal fusion limb defects micrognatia [MeSH Supplementary Concept]
- split hand foot deformity [MeSH Supplementary Concept]
- steinfeld syndrome [MeSH Supplementary Concept]
- stern lubinsky durrie syndrome [MeSH Supplementary Concept]
- terminal osseous dysplasia and pigmentary defects [MeSH Supplementary Concept]
- tetramelic monodactyly [MeSH Supplementary Concept]
- thoracic Dysplasia-Hydrocephalus syndrome [MeSH Supplementary Concept]
- thoraco limb dysplasia rivera type [MeSH Supplementary Concept]
- thoracomelic dysplasia [MeSH Supplementary Concept]
- ulnar hypoplasia with mental retardation [MeSH Supplementary Concept]
- viljoen kallis voges syndrome [MeSH Supplementary Concept]
- weyers acrofacial dysostosis [MeSH Supplementary Concept]
- wright dyck syndrome [MeSH Supplementary Concept]
- yunis varon syndrome [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- extremities [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital anomaly of limb (disorder) [SNOMED CT concept]
- Congenital deformities of limbs [ORDO Disease]
- Congenital limb anomaly NOS [MedDRA LLT]
- Congenital limb malformation [ORDO Disease]
- Congenital limb malformation NOS [MedDRA LLT]
- LIMB MALFORMATION [WHO-ART Preferred Term]
- Limb malformation [MedDRA Preferred Term]
- Limb malformation [MedDRA LLT]
- Limb malformation NOS [MedDRA LLT]
- Unspecified anomaly of unspecified limb [ICD-9 code]
- Unspecified congenital malformation of limb(s) [ICD-10 Sub-category]
- Unspecified congenital malformation of limb(s) [ICD-10 Sub-category (who)]
- congenital anomaly of limb, nos [SNOMED Notion]
- limb malformation [Disease (Nov.)]

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