Osebold-remondini syndrome

Preferred Label : Osebold-remondini syndrome;

CISMeF acronym : BDA6;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Brachydactyly, type a6; Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; BDA6;

Inheritance : Autosomal dominant;

Prefixed ID : 112910;

Details

Origin ID

112910;

UMLS CUI

C1862130;

CISMeF manual mappings
- Brachydactyly type A6 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachydactyly type A6 [ICD-11 More detail]
- Brachydactyly type A6 [MeSH concept]
- Brachydactyly type A6 [ORDO Disease]
- brachydactyly type A6 [DO Concept]
- brachydactyly type A6 [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type A6 [DO Concept]
HPO term(s)
- Abnormality of the vertebral column [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bipartite calcaneus [HPO term]
- Broad finger [HPO term]
- Broad toe [HPO term]
- Carpal synostosis [HPO term]
- Decreased finger mobility [HPO term]
- Dysplastic distal radial epiphyses [HPO term]
- Fibular hypoplasia [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Mesomelia [HPO term]
- Radial deviation of finger [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short tibia [HPO term]
- Short toe [HPO term]
- Short, broad fingers [HPO term]
- Short, broad toes [HPO term]
- Tarsal synostosis [HPO term]
- Type A brachydactyly [HPO term]
ORDO concept(s)
- Brachydactyly type A6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type A6 [ORDO Disease]
- Brachydactyly type A6 [MeSH concept]
- Brachydactyly type A6 [ICD-11 More detail]
- Brachydactyly type A6 (disorder) [SNOMED CT concept]
- brachydactyly type A6 [MeSH Supplementary Concept]
- brachydactyly type A6 [DO Concept]

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