Genee-Wiedemann syndrome

Preferred Label : Genee-Wiedemann syndrome;

CISMeF acronym : GWAFD;

MeSH synonym : Wildervanck-Smith syndrome; POADS syndrome; postaxial acrofacial dysostosis (POADS) syndrome; Genee-Wiedemann acrofacial dysostosis; miller syndrome; postaxial acrofacial dysostosis; Postaxial Acrofacial Dysostosis (POADS);

Détails

Origin ID

C537680;

UMLS CUI

C0265257;

Automatic exact mappings (from CISMeF team)
- Maternally inherited Leigh syndrome [ICD-11 More detail]
- Mil [NCIt concept]
- Miller (occupation) [SNOMED CT concept]
- Milles' syndrome [MedDRA LLT]
- Milli [NCIt concept]
- Mills syndrome [ORDO Disease]
- Mitochondrial DNA-associated Leigh syndrome [ORDO Disease]
- Postaxial acrofacial dysostosis [ICD-11 More detail]
- mil [UCUM unit]
- milli [IUPAC Unit Prefix]
- postaxial acrofacial dysostosis [DO Concept]
Currated CISMeF NLP mapping
- Miller syndrome [Disease (Nov.)]
- Miller syndrome [OMIM Phenotype]
- Miller syndrome (disorder) [SNOMED CT concept]
- Postaxial acrofacial dysostosis [ORDO Disease]
- miller syndrome [SNOMED Notion]
DO Cross reference
- postaxial acrofacial dysostosis [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH Descriptor]
- micrognathism [MeSH Descriptor]
Record concept(s)
- Genee-Wiedemann syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Miller syndrome [OMIM Phenotype]
- Miller syndrome [Disease (Nov.)]
- Miller syndrome (disorder) [SNOMED CT concept]
- Postaxial acrofacial dysostosis [ORDO Disease]
- miller syndrome [SNOMED Notion]
- postaxial acrofacial dysostosis [DO Concept]

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