111394006: Metabolic disorder of transport (disorder)

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

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

203074014 Metabolic disorder of transport en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

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 (disorder)	Is a	Metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metabolic disorder of transport (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of oxygen transport (disorder)	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Arginine vasopressin resistance (disorder)	Is a	False	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Amino acid transport disorder	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal tubular acidosis (disorder)	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal variant form of transthyretin (disorder)	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyrotoxic periodic paralysis	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Secondary periodic paralysis	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudohypoaldosteronism	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Primary hypomagnesemia	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
diabète insipide	Is a	False	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Long-chain fatty acid transport deficiency (disorder)	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked creatine deficiency (disorder)	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Brain dopamine-serotonin vesicular transport disease (disorder)	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Combined pancreatic lipase and colipase deficiency (disorder)	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic metabolite absorption and transport disorder characterised 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 hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23.	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ketoacidosis due to monocarboxylate transporter-1 deficiency	Is a	True	Metabolic disorder of transport (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets