Encephalopathy due to prosaposin deficiency

Preferred Label : Encephalopathy due to prosaposin deficiency;

ICD-11 definition : Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses, and is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course.;

ICD-11 synonym : Combined prosaposin deficiency;

Details

Origin ID

935370911;

UMLS CUI

C4303785;

Currated CISMeF NLP mapping
- Combined saposin deficiency [OMIM Phenotype]
- Encephalopathy due to prosaposin deficiency [ORDO Disease]
- Encephalopathy due to prosaposin deficiency (disorder) [SNOMED CT concept]
- combined saposin deficiency [MeSH Supplementary Concept]
- combined saposin deficiency [DO Concept]
- combined saposin deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalopathy due to prosaposin deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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