1366590005: Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Finding of movement\Involuntary movement\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Finding of movement\Movement disorder\Extrapyramidal disease\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Finding of movement\Movement disorder\Extrapyramidal disease\Athetosis\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Procedure related finding\Evaluation finding\...
• \Microscopic specimen observation (finding)\Microcytosis\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Hematopoietic system finding\Microcytosis\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Genetic disease\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Microcytic anemia\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another.\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Athetosis\Choreoathetosis\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)
• \Disease\Developmental disorder\Developmental delay\Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5460572019	Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5460573012	Early-onset neurodegeneration, choreoathetoid movement, microcytic anaemia due to IREB2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5460574018	Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5460575017	Early-onset neurodegeneration, choreoathetoid movement, microcytic anaemia due to iron responsive element binding protein 2 gene mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5460576016	Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to IREB2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5460577013	NDCAMA - neurodegeneration, choreoathetoid movement, microcytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5460578015	NDCAMA - neurodegeneration, choreoathetoid movement, microcytic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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