deafness conductive ptosis skeletal anomalies

Preferred Label : deafness conductive ptosis skeletal anomalies;

MeSH synonym : jackson barr syndrome; deafness, conductive, with ptosis and skeletal anomalies;

Détails

Origin ID

C535993;

UMLS CUI

C1857340;

Automatic exact mappings (from CISMeF team)
- Conductive deafness - ptosis - skeletal anomalies [ICD-11 More detail]
Currated CISMeF NLP mapping
- Conductive deafness, ptosis, skeletal anomalies syndrome (disorder) [SNOMED CT concept]
- Conductive deafness-ptosis-skeletal anomalies syndrome [ORDO Disease]
- Deafness, conductive, with ptosis and skeletal anomalies [OMIM Phenotype]
Has phenotype(s) (HPO)
- Bilateral sensorineural deafness [HPO term]
- Chronic ear infection [HPO term]
MeSH term(s) associated for indexing
- blepharoptosis [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- hearing loss, conductive [MeSH Descriptor]
ORDO relation(s)
- Conductive deafness-ptosis-skeletal anomalies syndrome [ORDO Disease]
Record concept(s)
- Deafness conductive ptosis skeletal anomalies [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Conductive deafness, ptosis, skeletal anomalies syndrome (disorder) [SNOMED CT concept]
- Conductive deafness-ptosis-skeletal anomalies syndrome [ORDO Disease]
- Deafness, conductive, with ptosis and skeletal anomalies [OMIM Phenotype]

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