short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities

Preferred Label : short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities;

MeSH synonym : sams;

Origin ID

C566544;

UMLS CUI

C1865361;

Currated CISMeF NLP mapping
- Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities [OMIM Phenotype]
False automatic mappings
- Doxorubicin/Semustine/Streptozocin Regimen [NCIt concept]
- Systolic anterior movement of mitral valve (disorder) [SNOMED CT concept]
- methionine adenosyltransferase 1A [ORDO Gene]
MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- ear canal [MeSH Descriptor]
- mandible [MeSH Descriptor]
Record concept(s)
- short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities [OMIM Phenotype]
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome [ORDO Disease]