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79886009: Disorder of copper metabolism (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
132543013 Disorder of copper metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
820985014 Disorder of copper metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3037102019 Copper metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
925871000172117 trouble du métabolisme du cuivre fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of copper metabolism Is a Disorder of mineral metabolism true Inferred relationship Some
Disorder of copper metabolism Finding site Body system structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypercupruria Is a True Disorder of copper metabolism Inferred relationship Some
Hypocupremia Is a False Disorder of copper metabolism Inferred relationship Some
Familial hypoceruloplasminemia Is a True Disorder of copper metabolism Inferred relationship Some
Nutritional myelopathy of pigs Is a False Disorder of copper metabolism Inferred relationship Some
Cutis laxa, x-linked Is a True Disorder of copper metabolism Inferred relationship Some
Hypercupremia Is a False Disorder of copper metabolism Inferred relationship Some
Swayback of sheep Is a False Disorder of copper metabolism Inferred relationship Some
Wilson's disease Is a True Disorder of copper metabolism Inferred relationship Some
Hypercupremia Is a False Disorder of copper metabolism Inferred relationship Some
Disorder of copper metabolism NOS Is a False Disorder of copper metabolism Inferred relationship Some
Copper storage associated hepatitis (disorder) Associated etiologic finding False Disorder of copper metabolism Inferred relationship Some
Menkes kinky-hair syndrome Is a True Disorder of copper metabolism Inferred relationship Some
Copper storage associated hepatitis (disorder) Due to True Disorder of copper metabolism Inferred relationship Some 2
Copper-associated hepatitis in Bedlington terriers Due to False Disorder of copper metabolism Inferred relationship Some
Indian childhood cirrhosis Is a True Disorder of copper metabolism Inferred relationship Some
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. Due to True Disorder of copper metabolism Inferred relationship Some 3
Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988. Is a True Disorder of copper metabolism Inferred relationship Some
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described. Is a True Disorder of copper metabolism Inferred relationship Some
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described. Due to True Disorder of copper metabolism Inferred relationship Some 2

This concept is not in any reference sets

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