900000000000508004: Great Britain English language 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 lenguaje\conjunto de referencias de lenguaje para el idioma inglés\conjunto de referencias en idioma inglés de Gran Bretaña

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 en idioma inglés de Gran Bretaña	es un[a]	conjunto de referencias de lenguaje para el idioma inglés	true	relación inferida	restricción existencial (metadato del núcleo)

Members	acceptabilityId
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterised by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	preferido
16p12.1p12.3 triplication syndrome	preferido
16p12.1p12.3 triplication syndrome (disorder)	preferido
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterised by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	preferido
16p12.2 microdeletion	aceptable (metadato fundacional)
16p12.2 microdeletion syndrome	preferido
16p12.2 microdeletion syndrome (disorder)	preferido
16p13.11 microdeletion syndrome	preferido
16p13.11 microdeletion syndrome (disorder)	preferido
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems.	preferido
16p13.11 microduplication syndrome	preferido
16p13.11 microduplication syndrome (disorder)	preferido
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	preferido
16p13.2 microdeletion syndrome	aceptable (metadato fundacional)
16p13.3 microduplication syndrome	preferido
16p13.3 microduplication syndrome (disorder)	preferido
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterised by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems.	preferido
16q partial monosomy syndrome	preferido
16q partial monosomy syndrome (disorder)	preferido
16q partial trisomy syndrome	preferido
16q partial trisomy syndrome (disorder)	preferido
16q24.1 microdeletion syndrome	preferido
16q24.1 microdeletion syndrome (disorder)	preferido
16q24.3 microdeletion syndrome	preferido
16q24.3 microdeletion syndrome (disorder)	preferido
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	preferido
16x/day	aceptable (metadato fundacional)
17	preferido
17 (AJCC)	aceptable (metadato fundacional)
17 (UICC)	aceptable (metadato fundacional)
17 (qualifier value)	preferido
17 Hydroxyprogesterone measurement	preferido
17 Hydroxyprogesterone measurement (procedure)	preferido
17 Hydroxyprogesterone measurement, amniotic fluid	preferido
17 Hydroxyprogesterone measurement, amniotic fluid (procedure)	preferido
17 Hydroxyprogesterone measurement, serum	preferido
17 Hydroxyprogesterone measurement, serum (procedure)	preferido
17 OHP - 17-hydroxyprogesterone	aceptable (metadato fundacional)
17 alpha-Hydroxylase deficiency	aceptable (metadato fundacional)
17 alpha-Hydroxyprogesterone aldolase deficiency	preferido
17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)	preferido
17 alpha-hydroxyprogesterone	aceptable (metadato fundacional)
17 alpha-hydroxyprogesterone	preferido
17 alpha-hydroxyprogesterone (substance)	preferido
17 beta-estradiol (substance)	preferido
17 beta-estradiol preparation (product)	preferido
17 beta-hydroxysteroid dehydrogenase	aceptable (metadato fundacional)
17 beta-oestradiol	preferido
17 beta-oestradiol preparation	preferido
17,18,21-trihydroxypregn-4-ene-3,11,20-trione	aceptable (metadato fundacional)
17,21-dihydroxypregnenolone	preferido
17,21-dihydroxypregnenolone (substance)	preferido
17,21-hydroxyprogesterone	aceptable (metadato fundacional)
17-Beta-estriol	preferido
17-Beta-estriol (substance)	preferido
17-Hydroxycorticosteroid	preferido
17-Hydroxycorticosteroid (substance)	preferido
17-Hydroxyketosteroids measurement	preferido
17-Hydroxyketosteroids measurement (procedure)	preferido
17-Hydroxypregnenolone measurement	preferido
17-Hydroxypregnenolone measurement (procedure)	preferido
17-KGS measurement	aceptable (metadato fundacional)
17-KS measurement	aceptable (metadato fundacional)
17-KS measurement, fractionation	aceptable (metadato fundacional)
17-KSR deficiency	aceptable (metadato fundacional)
17-Ketogenic steroid	preferido
17-Ketogenic steroid (substance)	preferido
17-Ketogenic steroids measurement	preferido
17-Ketogenic steroids measurement (procedure)	preferido
17-Ketosteroid reductase deficiency	aceptable (metadato fundacional)
17-Ketosteroids	aceptable (metadato fundacional)
17-Ketosteroids measurement	preferido
17-Ketosteroids measurement (procedure)	preferido
17-Ketosteroids measurement, fractionation, urine	preferido
17-Ketosteroids measurement, fractionation, urine (procedure)	preferido
17-Ketosteroids measurement, total	preferido
17-Ketosteroids measurement, total (procedure)	preferido
17-O-deacetylvindoline O-acetyltransferase	preferido
17-O-deacetylvindoline O-acetyltransferase (substance)	preferido
17-OHCS measurement	aceptable (metadato fundacional)
17-Oxogenic steroid	aceptable (metadato fundacional)
17-Oxosteroid	preferido
17-Oxosteroid (substance)	preferido
17-alpha-18,21-trihydroxypregn-4-ene-3,20-dione	aceptable (metadato fundacional)
17-alpha-hydroxypregnenolone	aceptable (metadato fundacional)
17-beta estradiol	aceptable (metadato fundacional)
17-hydrocorticosteroid	aceptable (metadato fundacional)
17-hydroxycorticoid	aceptable (metadato fundacional)
17-hydroxycorticosteroid	preferido
17-hydroxycorticosteroid (substance)	preferido
17-hydroxycorticosteroid measurement	preferido
17-hydroxycorticosteroid measurement (procedure)	preferido
17-hydroxylase	aceptable (metadato fundacional)
17-hydroxypregnenolone	preferido
17-hydroxypregnenolone (substance)	preferido
17-hydroxyprogesterone	preferido
17-hydroxyprogesterone (substance)	preferido
17-ketogenic steroid	preferido
17-ketogenic steroid (substance)	preferido
17-ketogenic steroids level above reference range	preferido
17-ketogenic steroids level above reference range (finding)	preferido

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
2911405018	conjunto de referencias en idioma inglés de Gran Bretaña	es	sinónimo (metadato del núcleo)	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	Latin American Spanish extension module
2911664012	conjunto de referencias en idioma inglés de Gran Bretaña (metadato fundacional)	es	descripción completa	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	Latin American Spanish extension module
900000000001112010	Great Britain English language reference set	en	sinónimo (metadato del núcleo)	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001113017	GB English	en	sinónimo (metadato del núcleo)	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001114011	Great Britain English language reference set (foundation metadata concept)	en	descripción completa	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)