chitty hall baraitser syndrome

Preferred Label : chitty hall baraitser syndrome;

MeSH synonym : growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction; deafness, femoral epiphyseal dysplasia, short stature and developmental delay;

Details

Origin ID

C535928;

UMLS CUI

C1832438;

Automatic exact mappings (from CISMeF team)
- Deafness - epiphyseal dysplasia - short stature [ICD-11 More detail]
Currated CISMeF NLP mapping
- Deafness with epiphyseal dysplasia and short stature syndrome (disorder) [SNOMED CT concept]
- Deafness-epiphyseal dysplasia-short stature syndrome [ORDO Disease]
- Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction [OMIM Phenotype]
MeSH term(s) associated for indexing
- bone diseases, metabolic [MeSH Descriptor]
- femur [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- lacrimal duct obstruction [MeSH Descriptor]
Record concept(s)
- Chitty Hall Baraitser syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness with epiphyseal dysplasia and short stature syndrome (disorder) [SNOMED CT concept]
- Deafness-epiphyseal dysplasia-short stature syndrome [ORDO Disease]
- Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction [OMIM Phenotype]

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