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
28425011 Amino acid transport disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
28426012 Disorder of amino acid transport, NOS en Synonym (core metadata concept) Inactive 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 Entire term case insensitive (core metadata concept) SNOMED CT core
1988911000005119 aminosyretransportsygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish 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	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
glucoaminophosphaturi-syndrom	Is a	False	Amino acid transport disorder	Inferred relationship	Some
Benign neonatal hyperaminoaciduri	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	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
A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.	Is a	True	Amino acid transport disorder	Inferred relationship	Some
Hypotonia cystinuria syndrome (disorder)	Is a	False	Amino acid transport disorder	Inferred relationship	Some
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	Some

This concept is not in any reference sets