temtamy preaxial brachydactyly syndrome

Preferred Label : temtamy preaxial brachydactyly syndrome;

MeSH note : Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies;

MeSH synonym : preaxial brachydactyly syndrome, temtamy type;

Details

Origin ID

C536958;

UMLS CUI

C1854466;

Currated CISMeF NLP mapping
- Temtamy preaxial brachydactyly syndrome [ORDO Disease]
- Temtamy preaxial brachydactyly syndrome [OMIM Phenotype]
- Temtamy preaxial brachydactyly syndrome (disorder) [SNOMED CT concept]
- temtamy preaxial brachydactyly syndrome [DO Concept]
DO Cross reference
- temtamy preaxial brachydactyly syndrome [DO Concept]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
- deafness [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- mouth abnormalities [MeSH Descriptor]
- tooth abnormalities [MeSH Descriptor]
Ne pas confondre avec
- brachymesophalangy 2 and 5 [MeSH Supplementary Concept]
Record concept(s)
- Temtamy preaxial brachydactyly syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Temtamy preaxial brachydactyly syndrome [OMIM Phenotype]
- Temtamy preaxial brachydactyly syndrome [ORDO Disease]
- Temtamy preaxial brachydactyly syndrome (disorder) [SNOMED CT concept]
- temtamy preaxial brachydactyly syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients