Terminology Service for NFDI4Health

Mitochondrial Enzyme Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C118675


A constellation of disorders whose common thread is the insufficient quantity of one or more mitochondrial enzymes. [ ]

Term info

Label

Mitochondrial Enzyme Deficiency

Synonyms
  • Mitochondrial Enzyme Deficiency
Subsets

NCIT_C90259, NCIT_C118464

ALT DEFINITION

A constellation of disorders whose common thread is the insufficient quantity of one or more mitochondrial enzymes.

Contributing Source

MedDRA, NICHD

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3492

Maps To

Mitochondrial enzyme deficiency

NICHD Hierarchy Term

Mitochondrial Enzyme Deficiency

Preferred Name

Mitochondrial Enzyme Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C1963826

code

C118675

Term relations

Subclass of: