alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

Preferred Label : alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis;

MeSH synonym : AMME Complex;

Origin ID

C564570;

UMLS CUI

C1846242;

Automatic exact mappings (from CISMeF team)
- AMME complex [DO Concept]
- Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) [SNOMED CT concept]
CISMeF manual mappings
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Amme complex [OMIM Phenotype]
DO Cross reference
- AMME complex [DO Concept]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- elliptocytosis, hereditary [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- nephritis, hereditary [MeSH Descriptor]
Record concept(s)
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AMME complex [DO Concept]
- Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) [SNOMED CT concept]
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome [ORDO Disease]
- Amme complex [OMIM Phenotype]