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281867008: Multisystem disorder (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
multisystemsygdom	Is a	Disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Iris coloboma with ptosis, hypertelorism, and mental retardation	Is a	False	multisystemsygdom	Inferred relationship	Some
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)	Is a	False	multisystemsygdom	Inferred relationship	Some
Feingold syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract.	Is a	False	multisystemsygdom	Inferred relationship	Some
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
GRACILE syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Trichohepatoenteric syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Solitary median maxillary central incisor syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Postviral fatigue syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
KBG syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some
Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.	Is a	False	multisystemsygdom	Inferred relationship	Some
A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease.	Is a	False	multisystemsygdom	Inferred relationship	Some
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.	Is a	False	multisystemsygdom	Inferred relationship	Some
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.	Is a	False	multisystemsygdom	Inferred relationship	Some
A clinical disease characterized by elevated serum IgG4 concentration and tumefaction or tissue infiltration by IgG4-positive plasma cells.	Is a	False	multisystemsygdom	Inferred relationship	Some
A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.	Is a	False	multisystemsygdom	Inferred relationship	Some
A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST, intramural mesenchymal tumours of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.	Is a	False	multisystemsygdom	Inferred relationship	Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	Is a	False	multisystemsygdom	Inferred relationship	Some

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
420000012	Multisystem disorders	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1187539010	Multisystem disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208719010	Multisystem disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2247081000005118	multisystemsygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)