Other congenital malformations of upper limb(s), including shoulder girdle

Preferred Label : Other congenital malformations of upper limb(s), including shoulder girdle;

Inclusion CIM-10 : Madelung's deformity; Accessory carpal bones; Cleidocranial dysostosis; Congenital pseudarthrosis of clavicle; Radioulnar synostosis; Macrodactylia (fingers); Sprengel's deformity; Triphalangeal thumb;

Diag associé à un acte (%) : 97.8;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q740;

UMLS CUI

C0478070;

Automatic exact mappings (from CISMeF team)
- Accessory carpal bone [ICD-11 More detail]
- Accessory carpal bone [MedDRA Preferred Term]
- Accessory carpal bones [HPO term]
- Accessory carpal bones [MedDRA LLT]
- Accessory carpal bones (disorder) [SNOMED CT concept]
- Carpus curvus [MedDRA Preferred Term]
- Clavicle, pseudarthrosis of, congenital [OMIM Phenotype]
- Cleidocranial Dysplasia [NCIt concept]
- Cleidocranial dysostosis [MedDRA Preferred Term]
- Cleidocranial dysostosis (disorder) [SNOMED CT concept]
- Cleidocranial dysplasia [ORDO Disease]
- Cleidocranial dysplasia 1 [OMIM Phenotype]
- Congenital elevation of scapula (disorder) [SNOMED CT concept]
- Congenital pseudoarthrosis of the clavicle [ORDO Disease]
- Leri-weill dyschondrosteosis [OMIM Phenotype]
- Madelung deformity [Radlex concept]
- Madelung deformity [ORDO Disease]
- Madelung deformity [ICD-11 Subcategory]
- Madelung deformity [HPO term]
- Madelung deformity [PASCAL descriptor]
- Madelung's deformity [MedDRA LLT]
- Polydactyly, preaxial II [OMIM Phenotype]
- Radio-ulnar synostosis [ICD-11 Subcategory]
- Radioulnar synostosis [HPO term]
- Radioulnar synostosis [MedDRA LLT]
- Radioulnar synostosis [PASCAL descriptor]
- Radioulnar synostosis (disorder) [SNOMED CT concept]
- Sprengel anomaly [HPO term]
- Sprengel deformity [ORDO Disease]
- Sprengel deformity [ICD-11 Subcategory]
- Sprengel deformity [OMIM Phenotype]
- Sprengel deformity [PASCAL descriptor]
- Triphalangeal thumb [ICD-11 Category]
- Triphalangeal thumb [HPO term]
- Triphalangeal thumb (disorder) [SNOMED CT concept]
- clavicle, pseudarthrosis of, congenital [MeSH concept]
- clavicle, pseudarthrosis of, congenital [MeSH Supplementary Concept]
- cleidocranial dysplasia [MeSH Descriptor]
- cleidocranial dysplasia [DO Concept]
- radioulnar synostosis [DO Concept]
- triphalangeal thumb [MeSH concept]
- triphalangeal thumb [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Macrodactylia (fingers) [MedDRA LLT]
- Macrodactylia of fingers (disorder) [SNOMED CT concept]
- Macrodactyly of fingers [ORDO Disease]
- macrodactylia of fingers [SNOMED Notion]
DO Cross reference
- cleidocranial dysplasia [DO Concept]
- radioulnar synostosis [DO Concept]
Orphanet concepts
- Acropectoral syndrome [ORDO Disease]
- Cleidocranial dysplasia [ORDO Disease]
- Congenital pseudoarthrosis of the clavicle [ORDO Disease]
- Congenital pseudoarthrosis of the radius [ORDO Disease]
- Congenital pseudoarthrosis of the ulna [ORDO Disease]
- Congenital radioulnar synostosis [ORDO Disease]
- Humero-radial synostosis [ORDO Disease]
- Humero-radial synostosis, bilateral [ORDO Disease]
- Humero-radial synostosis, unilateral [ORDO Disease]
- Humero-radio-ulnar synostosis [ORDO Disease]
- Humero-radio-ulnar synostosis, bilateral [ORDO Disease]
- Humero-radio-ulnar synostosis, unilateral [ORDO Disease]
- Humero-ulnar synostosis [ORDO Disease]
- Humero-ulnar synostosis, bilateral [ORDO Disease]
- Humero-ulnar synostosis, unilateral [ORDO Disease]
- Humerus trochlea aplasia [ORDO Disease]
- Hyperphalangy, bilateral [ORDO Disease]
- Hyperphalangy, unilateral [ORDO Disease]
- Macrodactyly of fingers [ORDO Disease]
- Macrodactyly of fingers, bilateral [ORDO Disease]
- Macrodactyly of fingers, unilateral [ORDO Disease]
- Madelung deformity [ORDO Disease]
- Madelung deformity, bilateral [ORDO Disease]
- Madelung deformity, unilateral [ORDO Disease]
- Parietal foramina with clavicular hypoplasia [ORDO Disease]
- Radio-ulnar synostosis, bilateral [ORDO Disease]
- Radio-ulnar synostosis, unilateral [ORDO Disease]
- Sprengel deformity [ORDO Disease]
- Tel Hashomer camptodactyly syndrome [ORDO Disease]
- Upper limb hypertrophy [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Other anomalies of upper limb, including shoulder girdle [ICD-9 code]
- Other congenital anomalies of upper limb, including shoulder girdle [ICD-9 code]
Validated automatic mappings to BTNT
- Macrodactyly of finger [HPO term]
- Madelung's deformity (disorder) [SNOMED CT concept]

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