900000000000490003: Description inactivation indicator attribute value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Attribute value type\Description inactivation indicator reference set

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Description inactivation indicator reference set	Is a	Attribute value type	true	Inferred relationship	Some

Members	valueId
A very rare malignant epithelial tumour of the pancreas characterised, macroscopically by a usually large well-circumscribed fully or partially encapsulated solid mass often with haemorrhage, necrosis and cystic changes in any portion of the pancreas. Histological characteristics are neoplastic cells with variable degrees of differentiation and morphology ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or less commonly jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.	Outdated component (foundation metadata concept)
A very rare mitochondrial disease with clinical characteristic of cardioencephalomyopathy resulting in death in infancy.	Outdated component (foundation metadata concept)
A very rare motor neuron disease with characteristics of progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence and subsequently, loss of motor speech production. Affected patients are usually normal at birth and have normal early development. During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron disorders including pseudobulbar palsy and spastic quadriplegia. Other signs include clumsiness, muscle weakness and balance difficulties. Mutations in the ALS2 gene (2q33-q35) encoding alsin, a protein that is abundant in motor neurons, and less commonly mutations in the ERLIN2 gene (8p11.2) have been reported. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalised increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood.	Concept non-current
A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood.	Concept non-current
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails	Outdated component (foundation metadata concept)
A very rare multiple congenital anomaly syndrome. The syndrome has characteristics of bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.	Outdated component (foundation metadata concept)
A very rare multisystem neurodegenerative disorder characterised by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioural or cognitive difficulties. Most cases are sporadic.	Outdated component (foundation metadata concept)
A very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioral or cognitive difficulties. Most cases are sporadic.	Outdated component (foundation metadata concept)
A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.	Outdated component (foundation metadata concept)
A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnoea occurring several hours to 5 days after birth and responding to folinic acid.	Outdated component (foundation metadata concept)
A very rare neoplasm of the pineal region that is thought to arise from the specialised ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.	Outdated component (foundation metadata concept)
A very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.	Outdated component (foundation metadata concept)
A very rare progressive and untreatable disease with manifestations of ataxia with sensory neuropathy. Prevalence is unknown, typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats.	Outdated component (foundation metadata concept)
A very rare recessive X-linked biogenic amine metabolism disorder with clinical characteristics of mild intellectual deficit, impulsive aggressiveness, sometimes violent behavior and presenting from childhood.	Outdated component (foundation metadata concept)
A very rare recessive X-linked biogenic amine metabolism disorder with clinical characteristics of mild intellectual deficit, impulsive aggressiveness, sometimes violent behaviour and presenting from childhood.	Outdated component (foundation metadata concept)
A very rare severe form of PCH with prenatal onset, with characteristics of fetal onset of clonus or seizures-like activity persisting into infancy and microcephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 is reported in 3 siblings to date. PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2).	Outdated component (foundation metadata concept)
A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly.	Outdated component (foundation metadata concept)
A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3.	Outdated component (foundation metadata concept)
A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia and prominent sensory neuropathy. Fewer than 10 cases in a 4-generation French family have been reported to date. Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal disorders such as vomiting and abdominal pain as initial symptoms. Scoliosis and urinary problems are also observed. Maps to chromosome 2p15-p21.	Outdated component (foundation metadata concept)
A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years. Maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease.	Outdated component (foundation metadata concept)
A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of slowly progressive cerebellar ataxia, mild cognitive impairment, postural and or resting tremor, bradykinesia, and rigidity. Prevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date. Maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified.	Outdated component (foundation metadata concept)
A very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. It has been described in two siblings. Both brother and sister had psychomotor retardation and died in the course of a respiratory infection. The reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessive trait.	Outdated component (foundation metadata concept)
A very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth.	Outdated component (foundation metadata concept)
A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth.	Outdated component (foundation metadata concept)
A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay.	Concept non-current
A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	Outdated component (foundation metadata concept)
A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Outdated component (foundation metadata concept)
A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy.	Outdated component (foundation metadata concept)
A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.	Outdated component (foundation metadata concept)
A very rare type of choroid plexus tumor that in contrast to papilloma of the choroid plexus has an increased likelihood of progression to carcinoma and of recurrence. The disease displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern and cell necrosis.	Outdated component (foundation metadata concept)
A very rare type of choroid plexus tumour that in contrast to papilloma of the choroid plexus has an increased likelihood of progression to carcinoma and of recurrence. The disease displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern and cell necrosis.	Outdated component (foundation metadata concept)
A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	Outdated component (foundation metadata concept)
A very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which has characteristic of a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.	Outdated component (foundation metadata concept)
A very rare variant of diffuse large B-cell lymphoma mainly affecting middle-aged immunocompetent men with features of a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.	Outdated component (foundation metadata concept)
A very rare, persistent and more severe form of potassium-aggravated myotonia. Begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs, and thoracic muscles. It can be aggravated by exercise or potassium ingestion and less often by cold. Myotonia permanens is a muscle sodium channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.	Outdated component (foundation metadata concept)
A vessel that includes lymphatic vessels, arterioles, capillaries and venules	Nonconformance to editorial policy component (foundation metadata concept)
A vessel that includes lymphatic vessels, arterioles, capillaries and venules.	Nonconformance to editorial policy component (foundation metadata concept)
A way for prescriptions for medical practitioners to be ordered by phone call to pharmacy	Concept non-current
A well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs.	Outdated component (foundation metadata concept)
A well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs.	Outdated component (foundation metadata concept)
A-1ACT - Alpha-1-antichymotrypsin	Nonconformance to editorial policy component (foundation metadata concept)
A-1AG - Alpha-1 acid glycoprotein	Erroneous component (foundation metadata concept)
A-1AT - Alpha-1-antitrypsin	Erroneous component (foundation metadata concept)
A-2M - Alpha-2 macroglobulin	Erroneous component (foundation metadata concept)
A-H INJECTION	Concept non-current
A-H INJECTION (product)	Concept non-current
A-H TABLETS	Concept non-current
A-H TABLETS (product)	Concept non-current
A-V fistula - acquired	Concept non-current
A-ase	Nonconformance to editorial policy component (foundation metadata concept)
A-ase	Concept non-current
A-esterase	Nonconformance to editorial policy component (foundation metadata concept)
A-fucosidase deficiency	Concept non-current
A.S.C.O.B. cocker spaniel	Concept non-current
A/B cover need - dentistry	Concept non-current
A/B cover need - dentistry	Concept non-current
A/B cover need - dentistry	Concept non-current
A/B cover need - dentistry (situation)	Concept non-current
A/B cover need - surg./dentist	Concept non-current
A/B cover need - surg./dentist	Concept non-current
A/B cover need - surg./dentist	Concept non-current
A/B cover need - surg./dentist (situation)	Concept non-current
A/B cover need - surgery	Concept non-current
A/B cover need - surgery	Concept non-current
A/B cover need - surgery	Concept non-current
A/B cover need - surgery &/or dentist	Concept non-current
A/B cover need - surgery &/or dentist	Concept non-current
A/B cover need - surgery &/or dentist (finding)	Concept non-current
A/B cover need - surgery &/or dentist (finding)	Concept non-current
A/B cover need - surgery (situation)	Concept non-current
A/B cover need for surgery	Concept non-current
A/B cover need for surgery	Concept non-current
A/Hypo-gammaglobulinaemia	Concept non-current
A/N - shared care	Nonconformance to editorial policy component (foundation metadata concept)
A/N - shared care	Concept non-current
A/N - shared care (finding)	Concept non-current
A/N 16 week examination	Nonconformance to editorial policy component (foundation metadata concept)
A/N U/S scan abnormal	Nonconformance to editorial policy component (foundation metadata concept)
A/N U/S scan abnormal	Concept non-current
A/N U/S scan abnormal (finding)	Concept non-current
A/N U/S scan awaited	Nonconformance to editorial policy component (foundation metadata concept)
A/N U/S scan awaited	Concept non-current
A/N U/S scan awaited (situation)	Concept non-current
A/N U/S scan for ? abnormality	Concept non-current
A/N U/S scan for ? abnormality (finding)	Concept non-current
A/N U/S scan for slow growth	Nonconformance to editorial policy component (foundation metadata concept)
A/N U/S scan for slow growth	Concept non-current
A/N U/S scan for slow growth (finding)	Concept non-current
A/N U/S scan normal += dates	Concept non-current
A/N U/S scan normal += dates (finding)	Concept non-current
A/N U/S scan normal +? dates	Concept non-current
A/N U/S scan normal +? dates	Concept non-current
A/N U/S scan normal +? dates (finding)	Concept non-current
A/N U/S scan normal and appropriate for dates	Nonconformance to editorial policy component (foundation metadata concept)
A/N U/S scan not offered	Concept non-current
A/N U/S scan not offered	Concept non-current
A/N U/S scan not offered (situation)	Concept non-current
A/N U/S scan not wanted	Concept non-current

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
900000000001069012	Description inactivation indicator attribute value reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001070013	Description inactivation indicator reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001071012	Description inactivation indicator attribute value reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)