Mitochondrial phosphate carrier deficiency

Preferred Label : Mitochondrial phosphate carrier deficiency;

ICD-11 definition : This refers to phosphate deficiency in proteins from the solute carrier family which transfers molecules across the membranes of the mitochondria.;

Details

Origin ID

1095525854;

UMLS CUI

C1835845;

Currated CISMeF NLP mapping
- Cardiomyopathy-hypotonia-lactic acidosis syndrome [ORDO Disease]
- Mitochondrial phosphate carrier deficiency [OMIM Phenotype]
- Mitochondrial phosphate carrier deficiency (disorder) [SNOMED CT concept]
- mitochondrial phosphate carrier deficiency [MeSH Supplementary Concept]
- mitochondrial phosphate carrier deficiency [MeSH concept]
- mitochondrial phosphate carrier deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy-hypotonia-lactic acidosis syndrome [ORDO Disease]
- Mitochondrial phosphate carrier deficiency [OMIM Phenotype]
- Mitochondrial phosphate carrier deficiency (disorder) [SNOMED CT concept]
- mitochondrial phosphate carrier deficiency [MeSH concept]
- mitochondrial phosphate carrier deficiency [MeSH Supplementary Concept]
- mitochondrial phosphate carrier deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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