Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Preferred Label : Brachymetapody-Anodontia-Hypotrichosis-Albinoidism;

MeSH synonym : oculoosteocutaneous syndrome; Anodontia-Hypotrichosis syndrome;

Details

Origin ID

C565893;

UMLS CUI

C1859385;

Automatic exact mappings (from CISMeF team)
- Oculo-osteo-cutaneous syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Brachymetapody-anodontia-hypotrichosis-albinoidism [OMIM Phenotype]
- Oculoosteocutaneous syndrome [ORDO Disease]
- Oculoosteocutaneous syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- albinism [MeSH Descriptor]
- anodontia [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- hypotrichosis [MeSH Descriptor]
- maxilla [MeSH Descriptor]
- metacarpal bones [MeSH Descriptor]
- metatarsal bones [MeSH Descriptor]
Record concept(s)
- Brachymetapody-Anodontia-Hypotrichosis-Albinoidism [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachymetapody-anodontia-hypotrichosis-albinoidism [OMIM Phenotype]
- Oculoosteocutaneous syndrome [ORDO Disease]
- Oculoosteocutaneous syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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