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267431006: Disorder of lipid 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
398851014 Disorder of lipid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
660047011 Disorder of lipid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3037714019 Lipid metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
398850010 Disorders of lipoid metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
398851014 Disorder of lipid metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
398851014 Disorder of lipid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
660047011 Disorder of lipid metabolism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
660047011 Disorder of lipid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3037714019 Lipid metabolism disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3037714019 Lipid metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
936531000195119 disturbo del metabolismo lipidico it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
329201000172116 trouble du métabolisme lipidique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
644421000172115 trouble du métabolisme des lipides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
329201000172116 trouble du métabolisme lipidique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
644421000172115 trouble du métabolisme des lipides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936531000195119 disturbo del metabolismo lipidico it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

29 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of lipid metabolism Is a Disorder of lipoprotein AND/OR lipid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of lipid metabolism Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of lipid metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Disorder of cholesterol metabolism Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Lipidosis Is a False Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Other disorders of lipoid metabolism Is a False Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of lipoid metabolism NOS Is a False Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
lipomatose bénigne symétrique Is a False Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie cornéenne cristalline de Schnyder Is a False Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Combined pancreatic lipase and colipase deficiency (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Megaconial congenital muscular dystrophy (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulinemia D with periodic fever (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Tubero-eruptive xanthoma (disorder) Due to True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept) 3
Tubero-eruptive xanthoma (disorder) Is a True Disorder of lipid metabolism Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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