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16784003: Amino acid transport disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
28424010 Amino acid transport disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28427015 Disorder of amino acid transport en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
743875017 Amino acid transport disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
28424010 Amino acid transport disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
28424010 Amino acid transport disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28427015 Disorder of amino acid transport en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
28427015 Disorder of amino acid transport en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
743875017 Amino acid transport disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
743875017 Amino acid transport disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4444431000241116 trouble du transport des acides aminés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4444431000241116 trouble du transport des acides aminés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

33 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Amino acid transport disorder Is a Metabolic disorder of transport (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Amino acid transport disorder Is a Disorder of amino acid metabolism (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Amino acid transport disorder Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Amino acid transport disorder Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Amino acid transport disorder Is a Disorder of amino acid and organic acid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Cystinosis Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lysinuric protein intolerance Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal cystine-lysinuria Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lysinuric protein intolerance Is a False Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi syndrome Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Glucoaminophosphaturia syndrome Is a False Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign neonatal hyperaminoaciduria Is a False Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Histidine transport defect (disorder) Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neutral 1 amino acid transport defect Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Iminoglycinuria Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cystinuria (disorder) Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cystinemia Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amino acid transport disorder NOS Is a False Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Other specified amino acid transport disorder Is a False Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dicarboxylic aminoaciduria syndrome (disorder) Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypotonia cystinuria syndrome (disorder) Is a False Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. Is a True Amino acid transport disorder Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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