702327009: Monocarboxylate transporter 8 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disorder\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disorder\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disorder\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Monocarboxylate transporter 8 deficiency
• \Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \General finding of soft tissue\Poor muscle tone\Monocarboxylate transporter 8 deficiency
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Monocarboxylate transporter 8 deficiency
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disorder\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Finding of head and neck region\Finding of neck region\...
• \Finding of thyroid gland\Disorder of thyroid gland\...
• \Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disorder of neck\Disorder of thyroid gland\...
• \Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Monocarboxylate transporter 8 deficiency
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Monocarboxylate transporter 8 deficiency
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Monocarboxylate transporter 8 deficiency
• \Muscle finding\Finding of muscle tone\Poor muscle tone\Monocarboxylate transporter 8 deficiency
• \Muscle finding\Finding of muscle tone\Decreased muscle tone\Monocarboxylate transporter 8 deficiency
• \Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Monocarboxylate transporter 8 deficiency
• \Musculoskeletal finding\Poor muscle tone\Monocarboxylate transporter 8 deficiency
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Monocarboxylate transporter 8 deficiency
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Monocarboxylate transporter 8 deficiency
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Monocarboxylate transporter 8 deficiency
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...
• \Paralytic syndrome of bilateral lower limbs\Paraplegia\...
• \Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Complete bilateral paralysis\Paraplegia\...
• \Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Monocarboxylate transporter 8 deficiency
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of extremity\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of extremity\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of extremity\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of extremity\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of neck\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of neck\Disorder of thyroid gland\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Monocarboxylate transporter 8 deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Metabolic disease\Chronic metabolic disorder\Monocarboxylate transporter 8 deficiency
• \Disease\Congenital disease\Congenital hypothyroidism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Monocarboxylate transporter 8 deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Thyroid hormone responsiveness defect\Monocarboxylate transporter 8 deficiency
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disorder\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Chronic disease\Chronic metabolic disorder\Monocarboxylate transporter 8 deficiency
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia\Monocarboxylate transporter 8 deficiency
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Monocarboxylate transporter 8 deficiency
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Monocarboxylate transporter 8 deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Monocarboxylate transporter 8 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Monocarboxylate transporter 8 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2994980011	Monocarboxylate transporter 8 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2995021019	Allan-Herndon-Dudley syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2995102013	Monocarboxylate transporter 8 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2995430016	Allan-Herndon syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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