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702327009: Monocarboxylate transporter 8 deficiency (disorder)


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
2994980011 Monocarboxylate transporter 8 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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
3394951001000113 Allan-Herndon-Dudley-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (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


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 Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Allan-Herndon-Dudley syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a Poor muscle tone true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a Thyroid hormone responsiveness defect true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a X-linked hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a Disorder of skeletal muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Interprets Muscle tone false Inferred relationship Existential restriction modifier (core metadata concept) 6
Allan-Herndon-Dudley syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Allan-Herndon-Dudley syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Allan-Herndon-Dudley syndrome Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Allan-Herndon-Dudley syndrome Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Allan-Herndon-Dudley syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Allan-Herndon-Dudley syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Allan-Herndon-Dudley syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Allan-Herndon-Dudley syndrome Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Allan-Herndon-Dudley syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Allan-Herndon-Dudley syndrome Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Allan-Herndon-Dudley syndrome Is a Chronic disease of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a Chronic mental disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 7
Allan-Herndon-Dudley syndrome Is a Decreased muscle tone (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Allan-Herndon-Dudley syndrome Interprets Muscle tone true Inferred relationship Existential restriction modifier (core metadata concept) 3
Allan-Herndon-Dudley syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 3
Allan-Herndon-Dudley syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Allan-Herndon-Dudley syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Allan-Herndon-Dudley syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Allan-Herndon-Dudley syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 8
Allan-Herndon-Dudley syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Allan-Herndon-Dudley syndrome Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 9
Allan-Herndon-Dudley syndrome Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Allan-Herndon-Dudley syndrome Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 10
Allan-Herndon-Dudley syndrome Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 11
Allan-Herndon-Dudley syndrome Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 11

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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