anophthalmos with limb anomalies

Preferred Label : anophthalmos with limb anomalies;

MeSH synonym : anophthalmos-syndactyly; waardenburg anophthalmia syndrome; anophthalmia waardenburg syndrome; ophthalmoacromelic syndrome; microphthalmia with limb anomalies; Anophthalmia-Syndactyly;

Is substance : O;

Details

Origin ID

C537769;

UMLS CUI

C0599973;

Automatic exact mappings (from CISMeF team)
- Ophthalmoacromelic syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Microphthalmia with limb anomalies [OMIM Phenotype]
- Microphthalmia with limb anomalies [ORDO Disease]
- Ophthalmo-acromelic syndrome (disorder) [SNOMED CT concept]
- microphthalmia with limb anomalies [DO Concept]
MeSH term(s) associated for indexing
- waardenburg syndrome [MeSH Descriptor]
Record concept(s)
- Anophthalmos with limb anomalies [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia with limb anomalies [OMIM Phenotype]
- Microphthalmia with limb anomalies [ORDO Disease]
- Ophthalmo-acromelic syndrome (disorder) [SNOMED CT concept]
- microphthalmia with limb anomalies [DO Concept]

Keyword's position in hierarchy(ies) :

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