Ophthalmomandibulomelic dysplasia

Preferred Label : Ophthalmomandibulomelic dysplasia;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Omm syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : %164900;

Details

Origin ID

164900;

UMLS CUI

C1833872;

Automatic exact mappings (from CISMeF team)
- Ophthalmomandibulomelic dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hallermann Streiff syndrome [Disease (Nov.)]
- Ophthalmomandibulomelic dysplasia [ORDO Disease]
- Ophthalmomandibulomelic dysplasia (disorder) [SNOMED CT concept]
- ophthalmomandibulomelic dysplasia [MeSH concept]
- ophthalmomandibulomelic dysplasia [MeSH Supplementary Concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Corneal opacity [HPO term]
- Coxa valga [HPO term]
- Decreased mobility 3rd-5th fingers [HPO term]
- Elbow dislocation [HPO term]
- Fibular hypoplasia [HPO term]
- Genu varus [HPO term]
- Lateral humeral condyle aplasia [HPO term]
- Megalocornea [HPO term]
- Mesomelia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Radial bowing [HPO term]
- Radiohumeral dislocation [HPO term]
- Radioulnar dislocation [HPO term]
- Temporomandibular joint ankylosis [HPO term]
- Ulnar deviated club hands [HPO term]
ORDO concept(s)
- Ophthalmomandibulomelic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ophthalmomandibulomelic dysplasia [ORDO Disease]
- Ophthalmomandibulomelic dysplasia (disorder) [SNOMED CT concept]
- ophthalmomandibulomelic dysplasia [MeSH Supplementary Concept]
- ophthalmomandibulomelic dysplasia [MeSH concept]

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