702327009: Monocarboxylate transporter 8 deficiency (disorder)

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

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

Descriptions:

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