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 including back of neck.\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\Genetic 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 neck region\Finding of thyroid gland\Disorder of thyroid gland\Thyroid hormone responsiveness defect\Allan-Herndon-Dudley syndrome
• \Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Thyroid hormone responsiveness defect\Allan-Herndon-Dudley syndrome
• \Finding of movement\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\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\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\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\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\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\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\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
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Allan-Herndon-Dudley syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Allan-Herndon-Dudley syndrome
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Allan-Herndon-Dudley syndrome
• \Muscle finding\Finding of muscle tone (finding)\Poor muscle tone (finding)\Allan-Herndon-Dudley syndrome
• \Muscle finding\Finding of 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 (disorder)\Hereditary disorder of musculoskeletal system\Allan-Herndon-Dudley syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Allan-Herndon-Dudley syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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\Genetic intellectual disability\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)\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\Fetal and/or neonatal disorder\Congenital disease\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\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)\Thyroid hormone responsiveness defect\Allan-Herndon-Dudley syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Thyroid hormone responsiveness defect\Allan-Herndon-Dudley syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Thyroid hormone responsiveness defect\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\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\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 (disorder)\Hereditary disorder of musculoskeletal system\Allan-Herndon-Dudley syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Allan-Herndon-Dudley syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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\Thyroid hormone responsiveness defect\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 including back of neck.\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 nervous system 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\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 is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic 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
7567901000241117	déficit en MCT8 (monocarboxylate transporter 8)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7567911000241115	syndrome d'Allan-Herndon-Dudley	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7567921000241110	déficit en transporteur 8 de monocarboxylate	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394951001000113	Allan-Herndon-Dudley-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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