alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

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

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564870;

UMLS CUI

C1846242;

Automatic exact mappings (from CISMeF team)
- Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Amme complex [OMIM Phenotype]
Related record
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH Supplementary 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]

Keyword's position in hierarchy(ies) :

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