238045003: Disorder of glycoprotein metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism

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

356821016 Disorder of glycoprotein metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626872018 Disorder of glycoprotein metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037447012 Glycoprotein metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4237491000005118 glycoproteinstofskifteforstyrrelse 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
Disorder of glycoprotein metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Disorder of glycoprotein metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of glycoprotein metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alpha-N-acetylgalactosaminidase deficiency	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Carbohydrate-deficient glycoprotein syndrome	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Alpha-2-antitrypsin deficiency	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Mannosidosis (disorder)	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
I-cell disease	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Glycoprotein storage disorder	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
A rare congenital disorder of glycosylation characterised by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnormalities.	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26.	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some
Reunion Island Larsen-like syndrome	Is a	False	Disorder of glycoprotein metabolism	Inferred relationship	Some
Oligosaccharidosis (disorder)	Is a	True	Disorder of glycoprotein metabolism	Inferred relationship	Some

This concept is not in any reference sets