FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1279845005: Combined oxidative phosphorylation defect type 39 (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\...
    • \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
      • \Hereditary disorder of musculoskeletal system\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
      • \Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy (disorder)\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
    • \Disease\Developmental disorder (disorder)\Developmental delay\A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5234093010 Combined oxidative phosphorylation defect type 39 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234094016 Combined oxidative phosphorylation defect type 39 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234095015 COXPD39 - combined oxidative phosphorylation defect type 39 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234096019 GTP dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234097011 GFM2-related combined oxidative phosphorylation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400726014 A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400727017 A rare mitochondrial oxidative phosphorylation disorder characterised by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234093010 Combined oxidative phosphorylation defect type 39 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234094016 Combined oxidative phosphorylation defect type 39 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234095015 COXPD39 - combined oxidative phosphorylation defect type 39 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234096019 GTP dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234097011 GFM2-related combined oxidative phosphorylation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234098018 A rare mitochondrial oxidative phosphorylation disorder with characteristics of early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy or thin corpus callosum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400726014 A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400727017 A rare mitochondrial oxidative phosphorylation disorder characterised by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a Mitochondrial myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a Developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start