900000000000508004: Great Britain English language reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Language type reference set (foundation metadata concept)\English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)\GB English

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
GB English	Is a	English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)	true	Inferred relationship	Some

Members	acceptabilityId
46,XX ovarian dysgenesis, short stature syndrome (disorder)	Preferred (foundation metadata concept)
46,XX ovotesticular disorder of sex development	Preferred (foundation metadata concept)
46,XX ovotesticular disorder of sex development (disorder)	Preferred (foundation metadata concept)
46,XX testicular disorder of sex development	Preferred (foundation metadata concept)
46,XX testicular disorder of sex development (disorder)	Preferred (foundation metadata concept)
46,XY disorder of sex development	Preferred (foundation metadata concept)
46,XY disorder of sex development (disorder)	Preferred (foundation metadata concept)
46,XY disorder of sex development due to environmental chemical exposure	Preferred (foundation metadata concept)
46,XY disorder of sex development due to environmental chemical exposure (disorder)	Preferred (foundation metadata concept)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Preferred (foundation metadata concept)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)	Preferred (foundation metadata concept)
46,XY disorder of sex development due to maternal ingestion of progestogen	Preferred (foundation metadata concept)
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder)	Preferred (foundation metadata concept)
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Preferred (foundation metadata concept)
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency	Acceptable (foundation metadata concept)
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)	Preferred (foundation metadata concept)
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Preferred (foundation metadata concept)
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)	Preferred (foundation metadata concept)
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterised by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhoea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumours (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.	Preferred (foundation metadata concept)
46,XY ovotesticular disorder of sex development	Preferred (foundation metadata concept)
46,XY ovotesticular disorder of sex development (disorder)	Preferred (foundation metadata concept)
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterised by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.	Preferred (foundation metadata concept)
46,XY partial gonadal dysgenesis	Preferred (foundation metadata concept)
46,XY partial gonadal dysgenesis (disorder)	Preferred (foundation metadata concept)
460	Preferred (foundation metadata concept)
460 (qualifier value)	Preferred (foundation metadata concept)
467	Preferred (foundation metadata concept)
467 (qualifier value)	Preferred (foundation metadata concept)
469.01	Preferred (foundation metadata concept)
469.01 (qualifier value)	Preferred (foundation metadata concept)
46XX	Preferred (foundation metadata concept)
46XX (qualifier value)	Preferred (foundation metadata concept)
47 (AJCC)	Acceptable (foundation metadata concept)
47 (UICC)	Acceptable (foundation metadata concept)
47,XYY syndrome	Acceptable (foundation metadata concept)
47-Ca	Acceptable (foundation metadata concept)
475	Preferred (foundation metadata concept)
475 (qualifier value)	Preferred (foundation metadata concept)
48	Preferred (foundation metadata concept)
48 (AJCC)	Acceptable (foundation metadata concept)
48 (UICC)	Acceptable (foundation metadata concept)
48 (qualifier value)	Preferred (foundation metadata concept)
48 hour ambulatory electrocardiographic monitoring	Preferred (foundation metadata concept)
48 hour ambulatory electrocardiographic monitoring (procedure)	Preferred (foundation metadata concept)
48 hour faecal specimen	Acceptable (foundation metadata concept)
48 hour faeces specimen	Acceptable (foundation metadata concept)
48 hour stool specimen	Preferred (foundation metadata concept)
48 hour urine specimen	Preferred (foundation metadata concept)
48 hours	Preferred (foundation metadata concept)
48 hours (qualifier value)	Preferred (foundation metadata concept)
48,XXXX syndrome	Acceptable (foundation metadata concept)
48,XYYY syndrome	Preferred (foundation metadata concept)
48,XYYY syndrome (disorder)	Preferred (foundation metadata concept)
48-Cr	Acceptable (foundation metadata concept)
48-V	Acceptable (foundation metadata concept)
48.19	Preferred (foundation metadata concept)
48.19 (qualifier value)	Preferred (foundation metadata concept)
48.2	Preferred (foundation metadata concept)
48.2 (qualifier value)	Preferred (foundation metadata concept)
480	Preferred (foundation metadata concept)
480 (qualifier value)	Preferred (foundation metadata concept)
48000	Preferred (foundation metadata concept)
48000 (qualifier value)	Preferred (foundation metadata concept)
48000000	Preferred (foundation metadata concept)
48000000 (qualifier value)	Preferred (foundation metadata concept)
49 (AJCC)	Acceptable (foundation metadata concept)
49 (UICC)	Acceptable (foundation metadata concept)
49,XXXYY syndrome	Preferred (foundation metadata concept)
49,XXXYY syndrome (disorder)	Preferred (foundation metadata concept)
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterised by a eunuchoid habitus with gynaecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynaecomastia, hypogonadism, cryptorchidism, small penis and behavioural abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.	Preferred (foundation metadata concept)
49,XYYYY syndrome	Preferred (foundation metadata concept)
49,XYYYY syndrome (disorder)	Preferred (foundation metadata concept)
49-V	Acceptable (foundation metadata concept)
493 Poland	Preferred (foundation metadata concept)
4A (AJCC)	Acceptable (foundation metadata concept)
4A (UICC)	Acceptable (foundation metadata concept)
4A1 (AJCC)	Acceptable (foundation metadata concept)
4A1 (UICC)	Acceptable (foundation metadata concept)
4A2 (AJCC)	Acceptable (foundation metadata concept)
4A2 (UICC)	Acceptable (foundation metadata concept)
4B (AJCC)	Acceptable (foundation metadata concept)
4B (UICC)	Acceptable (foundation metadata concept)
4C (AJCC)	Acceptable (foundation metadata concept)
4C (UICC)	Acceptable (foundation metadata concept)
4D (four dimensional) ultrasonography	Acceptable (foundation metadata concept)
4D (four dimensional) ultrasound	Acceptable (foundation metadata concept)
4D (four dimensional) ultrasound scan	Acceptable (foundation metadata concept)
4Fr	Acceptable (foundation metadata concept)
4H leucodystrophy	Preferred (foundation metadata concept)
4H leukodystrophy (disorder)	Preferred (foundation metadata concept)
4H post incubation	Acceptable (foundation metadata concept)
4H post peritoneal dialysis	Acceptable (foundation metadata concept)
4H specimen	Acceptable (foundation metadata concept)
4H specimen	Acceptable (foundation metadata concept)
4H syndrome	Acceptable (foundation metadata concept)
4KB5	Acceptable (foundation metadata concept)
4a	Preferred (foundation metadata concept)
4a-hydroxytetrahydrobiopterin dehydratase	Preferred (foundation metadata concept)
4a-hydroxytetrahydrobiopterin dehydratase (substance)	Preferred (foundation metadata concept)
4ab	Preferred (foundation metadata concept)
4b	Preferred (foundation metadata concept)

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
900000000001112010	Great Britain English language reference set	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001113017	GB English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001114011	Great Britain English language reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)