16784003: Amino acid transport disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder

\Metabolic disorder of transport\Amino acid transport 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

2471291000052110 aminosyratransportrubbning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Amino acid transport disorder	Is a	Metabolic disorder of transport	true	Inferred relationship	Some
Amino acid transport disorder	Is a	Disorder of amino acid metabolism	false	Inferred relationship	Some
Amino acid transport disorder	Occurrence	Congenital	false	Inferred relationship	Some
Amino acid transport disorder	Finding site	Body system structure	false	Inferred relationship	Some
Amino acid transport disorder	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cystinosis (disorder)	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Lysinuric protein intolerance	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Neonatal cystine-lysinuria	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Lysinuric protein intolerance	Is a	False	Amino acid transport disorder	Inferred relationship	Some
Fanconi syndrome	Is a	True	Amino acid transport disorder	Inferred relationship	Some
glukoaminofosfaturisyndrom	Is a	False	Amino acid transport disorder	Inferred relationship	Some
benign neonatal hyperaminosyrauri	Is a	False	Amino acid transport disorder	Inferred relationship	Some
Histidine transport defect	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Lowe syndrome	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Neutral 1 amino acid transport defect	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Iminoglycinuria	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Cystinuria (disorder)	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Cystinemia	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Amino acid transport disorder NOS	Is a	False	Amino acid transport disorder	Inferred relationship	Some
Other specified amino acid transport disorder	Is a	False	Amino acid transport disorder	Inferred relationship	Some
Dicarboxylic aminoaciduria syndrome (disorder)	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Hypotonia cystinuria syndrome (disorder)	Is a	False	Amino acid transport disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)	Is a	True	Amino acid transport disorder	Inferred relationship	Some

This concept is not in any reference sets