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702327009: monocarboxylaattransporter 8-deficiëntie (aandoening)


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
6141851000146119 syndroom van Allan-Herndon-Dudley nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6141861000146116 monocarboxylaattransporter 8-deficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6141881000146112 monocarboxylaattransporter 8-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6141891000146114 syndroom van Allan-Herndon nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6141901000146110 X-gebonden intellectuele achterstand-hypotonie-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6141911000146112 AHDS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6141921000146119 MCT8-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Allan-Herndon-Dudley syndrome Is a X-linked hereditary disease false Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Allan-Herndon-Dudley syndrome Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Is a Intellectual disability true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a X-linked recessive hereditary disease true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Poor muscle tone (finding) true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Thyroid hormone responsiveness defect true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a X-linked hereditary spastic paraplegia (disorder) true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Disorder of skeletal muscle true Inferred relationship Some
Allan-Herndon-Dudley syndrome Interprets 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 Occurrence Congenital false Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Finding site Spinal cord structure true Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Occurrence Congenital true Inferred relationship Some 2
Allan-Herndon-Dudley syndrome Finding site Skeletal muscle structure true Inferred relationship Some 2
Allan-Herndon-Dudley syndrome Occurrence Congenital false Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Finding site Lower limb structure false Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Occurrence Congenital true Inferred relationship Some 4
Allan-Herndon-Dudley syndrome Finding site Thyroid structure true Inferred relationship Some 4
Allan-Herndon-Dudley syndrome Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Chronic metabolic disorder true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Chronic mental disorder false Inferred relationship Some
Allan-Herndon-Dudley syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 7
Allan-Herndon-Dudley syndrome Is a Decreased muscle tone (finding) true Inferred relationship Some
Allan-Herndon-Dudley syndrome Finding site Lower limb structure false Inferred relationship Some 6
Allan-Herndon-Dudley syndrome Interprets Muscle tone true Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Has interpretation 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 Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Allan-Herndon-Dudley syndrome Has interpretation Impaired true Inferred relationship Some 5
Allan-Herndon-Dudley syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 8
Allan-Herndon-Dudley syndrome Has interpretation Impaired true Inferred relationship Some 8
Allan-Herndon-Dudley syndrome Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Allan-Herndon-Dudley syndrome Interprets Movement true Inferred relationship Some 9
Allan-Herndon-Dudley syndrome Finding site Structure of right lower limb (body structure) true Inferred relationship Some 6
Allan-Herndon-Dudley syndrome Finding site Structure of left lower limb (body structure) true Inferred relationship Some 10
Allan-Herndon-Dudley syndrome Interprets Movement observable true Inferred relationship Some 11
Allan-Herndon-Dudley syndrome Has interpretation Absent true Inferred relationship Some 11
Allan-Herndon-Dudley syndrome Is a Congenital myopathy (disorder) true Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Congenital neurological disorder (disorder) false Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a Hereditary myopathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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