Seizures - intellectual deficit due to hydroxylysinuria

Preferred Label : Seizures - intellectual deficit due to hydroxylysinuria;

ICD-11 definition : This syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.;

Details

Origin ID

1235182906;

UMLS CUI

C1855986;

CISMeF manual mappings
- Seizures-intellectual disability due to hydroxylysinuria syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Hydroxylysinuria [OMIM Phenotype]
- Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) [SNOMED CT concept]
- hydroxylysinuria [MeSH concept]
- hydroxylysinuria [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Hydroxylysinuria [OMIM Phenotype]
- Hydroxylysinuria [HPO term]
- Seizures-intellectual disability due to hydroxylysinuria syndrome [ORDO Disease]
- hydroxylysinuria [MeSH concept]
- hydroxylysinuria [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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