111394006: Metabolic disorder of transport (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Metabolic disorder of transport

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

203074014 Metabolic disorder of transport en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

631048019 Metabolic disorder of transport (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

145581000077110 trouble métabolique du transport fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metabolic disorder of transport	Is a	Metabolic disease	true	Inferred relationship	Some
Metabolic disorder of transport	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of oxygen transport	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Arginine vasopressin resistance (disorder)	Is a	False	Metabolic disorder of transport	Inferred relationship	Some
Amino acid transport disorder	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Renal tubular acidosis	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Autosomal variant form of transthyretin	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Thyrotoxic periodic paralysis	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Secondary periodic paralysis	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Pseudohypoaldosteronism	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Primary hypomagnesemia	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
diabète insipide	Is a	False	Metabolic disorder of transport	Inferred relationship	Some
Long-chain fatty acid transport deficiency (disorder)	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
X-linked creatine deficiency	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.	Is a	True	Metabolic disorder of transport	Inferred relationship	Some
A rare disorder of ketone body transport characterised by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycaemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.	Is a	True	Metabolic disorder of transport	Inferred relationship	Some

This concept is not in any reference sets