702327009: Monocarboxylate transporter 8 deficiency (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome

\constatation générale à propos des tissus mous\Poor muscle tone (finding)\Allan-Herndon-Dudley syndrome
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Allan-Herndon-Dudley syndrome

\constatation à propos d'une région de la tête et du cou\Finding of neck region\...

\Finding of thyroid gland\affection de la glande thyroïde (trouble)\...

\hypothyroïdie\Congenital hypothyroidism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome

\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome

\affection du cou\affection de la glande thyroïde (trouble)\...

\hypothyroïdie\Congenital hypothyroidism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome

\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome

\constatation à propos d'un muscle\constatation à propos du tonus musculaire\Poor muscle tone (finding)\Allan-Herndon-Dudley syndrome
\constatation à propos d'un muscle\constatation à propos du tonus musculaire\Decreased muscle tone (finding)\Allan-Herndon-Dudley syndrome
\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Allan-Herndon-Dudley syndrome

\Musculoskeletal finding\Poor muscle tone (finding)\Allan-Herndon-Dudley syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Allan-Herndon-Dudley syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Allan-Herndon-Dudley syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Allan-Herndon-Dudley syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Allan-Herndon-Dudley syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Allan-Herndon-Dudley syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Allan-Herndon-Dudley syndrome
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Allan-Herndon-Dudley syndrome
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Allan-Herndon-Dudley syndrome
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande thyroïde (trouble)\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Allan-Herndon-Dudley syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Allan-Herndon-Dudley syndrome
\Disease\affection musculaire\affection d'un muscle squelettique\Allan-Herndon-Dudley syndrome
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\affection du cou\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\affection du cou\affection de la glande thyroïde (trouble)\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\trouble métabolique\Chronic metabolic disorder\Allan-Herndon-Dudley syndrome
\Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Allan-Herndon-Dudley syndrome
\Disease\trouble métabolique\Inborn error of metabolism\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Allan-Herndon-Dudley syndrome
\Disease\trouble mental\Chronic mental disorder\Allan-Herndon-Dudley syndrome
\Disease\Congenital disease\Congenital hypothyroidism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Allan-Herndon-Dudley syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\défaut de la réponse hormonale thyroïdienne\Allan-Herndon-Dudley syndrome
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\maladie chronique\Chronic mental disorder\Allan-Herndon-Dudley syndrome
\Disease\maladie chronique\Chronic metabolic disorder\Allan-Herndon-Dudley syndrome
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\X-linked hereditary spastic paraplegia (disorder)\Allan-Herndon-Dudley syndrome
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Allan-Herndon-Dudley syndrome
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Allan-Herndon-Dudley syndrome
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Allan-Herndon-Dudley syndrome
\Disease\trouble du développement\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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Poor muscle tone (finding)	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	défaut de la réponse hormonale thyroïdienne	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	X-linked hereditary spastic paraplegia (disorder)	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	affection d'un muscle squelettique	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	interprète (attribut)	Muscle tone	false	Inferred relationship	Some	6
Allan-Herndon-Dudley syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
Allan-Herndon-Dudley syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Allan-Herndon-Dudley syndrome	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	true	Inferred relationship	Some	1
Allan-Herndon-Dudley syndrome	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	1
Allan-Herndon-Dudley syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Allan-Herndon-Dudley syndrome	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	2
Allan-Herndon-Dudley syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Allan-Herndon-Dudley syndrome	localisation d'une constatation (attribut)	membre inférieur	false	Inferred relationship	Some	3
Allan-Herndon-Dudley syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Allan-Herndon-Dudley syndrome	localisation d'une constatation (attribut)	structure de la thyroïde	true	Inferred relationship	Some	4
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	maladie chronique de l'appareil locomoteur	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Chronic metabolic disorder	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Chronic mental disorder	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	7
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Decreased muscle tone (finding)	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	localisation d'une constatation (attribut)	membre inférieur	true	Inferred relationship	Some	6
Allan-Herndon-Dudley syndrome	interprète (attribut)	Muscle tone	true	Inferred relationship	Some	3
Allan-Herndon-Dudley syndrome	a pour interprétation (attribut)	Decreased	true	Inferred relationship	Some	3
Allan-Herndon-Dudley syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	localisation d'une constatation (attribut)	système nerveux	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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