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

concepto de SNOMED CT\componente del modelo de SNOMED CT\concepto de metadato fundacional (metadato fundacional)\conjunto de referencias\conjunto de referencias de tipo atributo-valor\conjunto de referencias atributo-valor de motivo de inactivación de descripciones

Status: current, estado de definición de concepto necesario pero no suficiente (metadato del núcleo). Date: 31-Jan 2002. Module: módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
conjunto de referencias atributo-valor de motivo de inactivación de descripciones	es un[a]	conjunto de referencias de tipo atributo-valor	true	relación inferida	restricción existencial (metadato del núcleo)

Members	valueId
99,74 (calificador)	concepto inactivo (metadato fundacional)
99,9	concepto inactivo (metadato fundacional)
99,9 (calificador)	concepto inactivo (metadato fundacional)
99,96	concepto inactivo (metadato fundacional)
99,96 (calificador)	concepto inactivo (metadato fundacional)
99.5	concepto inactivo (metadato fundacional)
99.5 (qualifier value)	concepto inactivo (metadato fundacional)
99.74	concepto inactivo (metadato fundacional)
99.74 (qualifier value)	concepto inactivo (metadato fundacional)
99.9	concepto inactivo (metadato fundacional)
99.9 (qualifier value)	concepto inactivo (metadato fundacional)
99.96	concepto inactivo (metadato fundacional)
99.96 (qualifier value)	concepto inactivo (metadato fundacional)
990	concepto inactivo (metadato fundacional)
990 (calificador)	concepto inactivo (metadato fundacional)
990 (qualifier value)	concepto inactivo (metadato fundacional)
999	concepto inactivo (metadato fundacional)
999 (calificador)	concepto inactivo (metadato fundacional)
999 (qualifier value)	concepto inactivo (metadato fundacional)
999,34	concepto inactivo (metadato fundacional)
999,34 (calificador)	concepto inactivo (metadato fundacional)
999.34	concepto inactivo (metadato fundacional)
999.34 (qualifier value)	concepto inactivo (metadato fundacional)
9am cortisol level	concepto inactivo (metadato fundacional)
9am cortisol level	concepto inactivo (metadato fundacional)
9am cortisol level (procedure)	concepto inactivo (metadato fundacional)
9am cortisol level (procedure)	concepto inactivo (metadato fundacional)
9p minus syndrome	concepto inactivo (metadato fundacional)
9p monosomy syndrome	concepto inactivo (metadato fundacional)
9p partial monosomy syndrome	concepto inactivo (metadato fundacional)
9p partial monosomy syndrome (disorder)	concepto inactivo (metadato fundacional)
9q22.3 deletion syndrome	concepto inactivo (metadato fundacional)
9q22.3 deletion syndrome (disorder)	concepto inactivo (metadato fundacional)
:: Gamma heavy chain disease	concepto inactivo (metadato fundacional)
<1.5 hours sent off: [DS4] or [DS1500]	concepto inactivo (metadato fundacional)
<1.5 hours sent off: [DS4] or [DS1500] (finding)	concepto inactivo (metadato fundacional)
<3	concepto inactivo (metadato fundacional)
<3 (calificador)	concepto inactivo (metadato fundacional)
<3 (qualifier value)	concepto inactivo (metadato fundacional)
<90	concepto inactivo (metadato fundacional)
<90 (calificador)	concepto inactivo (metadato fundacional)
<90 (qualifier value)	concepto inactivo (metadato fundacional)
>2.5 hours sent off: [DS4] or [DS1500]	concepto inactivo (metadato fundacional)
>2.5 hours sent off: [DS4] or [DS1500] (finding)	concepto inactivo (metadato fundacional)
>5	concepto inactivo (metadato fundacional)
>5 (calificador)	concepto inactivo (metadato fundacional)
>5 (qualifier value)	concepto inactivo (metadato fundacional)
>90	concepto inactivo (metadato fundacional)
>90 (calificador)	concepto inactivo (metadato fundacional)
>90 (qualifier value)	concepto inactivo (metadato fundacional)
>97	concepto inactivo (metadato fundacional)
>97 (calificador)	concepto inactivo (metadato fundacional)
>97 (qualifier value)	concepto inactivo (metadato fundacional)
? child now: [EC69] or [EC60] from FPC] or [EC69 from HB]	concepto inactivo (metadato fundacional)
? child now: [EC69] or [EC60] from FPC] or [EC69 from HB]	concepto inactivo (metadato fundacional)
? child now: [EC69] or [EC60] from FPC] or [EC69 from HB] (finding)	concepto inactivo (metadato fundacional)
? child now: [EC69] or [EC60] from FPC] or [EC69 from HB] (finding)	concepto inactivo (metadato fundacional)
? patient now: [FP69 from FPC] or [GP69 from HB]	concepto inactivo (metadato fundacional)
? patient now: [FP69 from FPC] or [GP69 from HB]	concepto inactivo (metadato fundacional)
? patient now: [FP69 from FPC] or [GP69 from HB] (finding)	concepto inactivo (metadato fundacional)
? patient now: [FP69 from FPC] or [GP69 from HB] (finding)	concepto inactivo (metadato fundacional)
A	concepto inactivo (metadato fundacional)
A & E doctor	Nonconformance to editorial policy component (foundation metadata concept)
A (estadificación tumoral)	concepto inactivo (metadato fundacional)
A (tumor staging)	concepto inactivo (metadato fundacional)
A - H INJECTION	concepto inactivo (metadato fundacional)
A - H INJECTION (producto)	concepto inactivo (metadato fundacional)
A - H TABLETS	concepto inactivo (metadato fundacional)
A - H TABLETS (producto)	concepto inactivo (metadato fundacional)
A - asa	concepto inactivo (metadato fundacional)
A 1 to 5 cm firm lesion raised above the surface of the surrounding skin; differs from a papule only in size	componente erróneo (metadato fundacional)
A Noonan-related syndrome with characteristics of facial anomalies suggestive of Noonan syndrome, a distinctive hair anomaly described as loose anagen hair syndrome, frequent congenital heart defects, distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichthyosis and short stature, often associated with a growth hormone deficiency and psychomotor delay. There is evidence that this syndrome is caused by heterozygous mutation in the SHOC2 gene on chromosome 10q25.	componente obsoleto (metadato fundacional)
A Wernicke-like encephalopathy with characteristics of seizures responsive to high doses of thiamine. Two cases have been described so far. Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia. The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A acquired demyelinating neuropathy disease with characteristics of acute symmetric monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalised areflexia and unsteady gait as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.	componente obsoleto (metadato fundacional)
A acquired demyelinating neuropathy disease with characteristics of acute symmetric monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia and unsteady gait as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.	componente obsoleto (metadato fundacional)
A basal ganglia disorder with manifestation of parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.	componente obsoleto (metadato fundacional)
A basal subtype of epidermolysis bullosa simplex characterised by generalised blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often haemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A basal subtype of epidermolysis bullosa simplex characterised by generalised or, less frequently, localised acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anaemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A basal subtype of epidermolysis bullosa simplex characterized by generalized blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A basal subtype of epidermolysis bullosa simplex characterized by generalized or, less frequently, localized acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. Prevalence is unknown but 2 families have been reported to date. Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant.	componente obsoleto (metadato fundacional)
A benign autosomal dominant form of slowly progressive muscular dystrophy. To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity. The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures that are sometimes suggestive of the diagnosis. Creatine kinase levels and histological findings are not conclusive. Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes. Treatment remains purely supportive.	componente obsoleto (metadato fundacional)
A benign form of holoprosencephaly with characteristics of midline defects without the typical holoprosencephaly defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.	componente obsoleto (metadato fundacional)
A benign genetic condition with characteristic of persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy.	componente obsoleto (metadato fundacional)
A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.	componente obsoleto (metadato fundacional)
A benign or malignant neoplasm arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac neoplasms are rare in children. The vast majority of primary cardiac neoplasms in children are benign, whilst approximately 10% are malignant. In contrast, the majority of secondary neoplasms are malignant.	componente obsoleto (metadato fundacional)
A bleeding disorder with characteristics of mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.	componente obsoleto (metadato fundacional)
A body cavity route that begins within the peritoneal cavity and that has the propensity for absorption via the peritoneal membrane.	Nonconformance to editorial policy component (foundation metadata concept)
A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission.	componente obsoleto (metadato fundacional)
A brain malformation due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical periventricular nodular heterotopia is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.	componente obsoleto (metadato fundacional)
A branchial arch syndrome with characteristics of supernumerary nipples, preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.	componente obsoleto (metadato fundacional)
A cauterisation done with thermal energy.	Nonconformance to editorial policy component (foundation metadata concept)
A cauterization done with thermal energy	componente erróneo (metadato fundacional)
A cauterization done with thermal energy.	Nonconformance to editorial policy component (foundation metadata concept)
A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	componente obsoleto (metadato fundacional)
A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities.	componente obsoleto (metadato fundacional)
A cerebral cortical malformation with features of unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	componente obsoleto (metadato fundacional)
A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.	componente obsoleto (metadato fundacional)
A cerebral malformation with epilepsy with predominant characteristics of posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Caused by heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.	componente obsoleto (metadato fundacional)

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Reference Sets

conjunto de referencias descriptivas de la estructura de otros conjuntos de referencias

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Id	Description	Lang	Type	Status	Case?	Module
2911447019	conjunto de referencias atributo-valor de motivo de inactivación de descripciones	es	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
2911569012	conjunto de referencias atributo-valor de motivo de inactivación de descripciones (metadato fundacional)	es	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
900000000001069012	Description inactivation indicator attribute value reference set	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001070013	Description inactivation indicator reference set	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001071012	Description inactivation indicator attribute value reference set (foundation metadata concept)	en	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)