ablepharon macrostomia syndrome

Preferred Label : ablepharon macrostomia syndrome;

MeSH note : Congenital ablepharon, absent eyelashes and eyebrows, wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies;

MeSH synonym : Ablepharon-Macrostomia syndrome;

Details

Origin ID

C535557;

UMLS CUI

C1860224;

Automatic exact mappings (from CISMeF team)
- Ablepharon macrostomia syndrome [MedDRA Preferred Term]
CISMeF manual mappings
- Ablepharon macrostomia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ablepharon macrostomia syndrome [ORDO Disease]
- Ablepharon-macrostomia syndrome [ICD-11 More detail]
- Ablepharon-macrostomia syndrome [OMIM Phenotype]
- ablepharon macrostomia syndrome [DO Concept]
DO Cross reference
- ablepharon macrostomia syndrome [DO Concept]
Has phenotype(s) (HPO)
- Eyelids, eyebrows, and eyelashes absent [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- macrostomia [MeSH Descriptor]
ORDO relation(s)
- Ablepharon macrostomia syndrome [ORDO Disease]
Record concept(s)
- Ablepharon macrostomia syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ablepharon macrostomia syndrome [ORDO Disease]
- Ablepharon macrostomia syndrome [MedDRA Preferred Term]
- Ablepharon macrostomia syndrome (disorder) [SNOMED CT concept]
- Ablepharon-macrostomia syndrome [OMIM Phenotype]
- ablepharon macrostomia syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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