Amme complex - CISMeF

Preferred Label : Amme complex;

CISMeF acronym : ATS-MR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis; ATS-MR; Chromosome xq22.3 telomeric deletion syndrome;

Prefixed ID : #300194;

Details

Origin ID

300194;

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]
Currated CISMeF NLP mapping
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome [ORDO Disease]
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH concept]
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH Supplementary Concept]
DO Cross reference
- AMME complex [DO Concept]
HPO term(s)
- Contiguous gene syndrome [HPO term]
- Elliptocytosis [HPO term]
- Intellectual disability [HPO term]
- Midface retrusion [HPO term]
ORDO concept(s)
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome [ORDO Disease]
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]
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH Supplementary Concept]
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH concept]

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