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778029000: FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3737331019 FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737332014 FAST kinase domains 2-related infantile mitochondrial encephalomyopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737333016 FASTKD2-related infantile mitochondrial encephalomyopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737334010 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737331019 FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737332014 FAST kinase domains 2-related infantile mitochondrial encephalomyopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737333016 FASTKD2-related infantile mitochondrial encephalomyopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737334010 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3415451001000113 Enzephalomyopathie, mitochondriale, Typ Ghezzi-Zeviani de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6217971000241119 encéphalomyopathie mitochondriale infantile associée au FASTKD2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6217981000241117 encéphalomyopathie mitochondriale infantile associée au domaine 'sérine/thréonine kinase de type 2 activée par le Fas' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6217971000241119 encéphalomyopathie mitochondriale infantile associée au FASTKD2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6217981000241117 encéphalomyopathie mitochondriale infantile associée au domaine 'sérine/thréonine kinase de type 2 activée par le Fas' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415451001000113 Enzephalomyopathie, mitochondriale, Typ Ghezzi-Zeviani de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 1
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 2
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a Mitochondrial encephalomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a Developmental and epileptic encephalopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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