Members |
acceptabilityId |
17-ketosteroid (substance) |
Preferred (foundation metadata concept) |
17-ketosteroid in urine specimen above reference range |
Acceptable (foundation metadata concept) |
17-ketosteroid in urine specimen above reference range (finding) |
Preferred (foundation metadata concept) |
17-ketosteroids level above reference range |
Preferred (foundation metadata concept) |
17-ketosteroids level above reference range (finding) |
Preferred (foundation metadata concept) |
17-ketosteroids level below reference range |
Preferred (foundation metadata concept) |
17-ketosteroids level below reference range (finding) |
Preferred (foundation metadata concept) |
17-ketosteroids within reference range |
Preferred (foundation metadata concept) |
17-ketosteroids within reference range (finding) |
Preferred (foundation metadata concept) |
17-oxosteroid |
Acceptable (foundation metadata concept) |
17-oxosteroids |
Acceptable (foundation metadata concept) |
17.7 |
Preferred (foundation metadata concept) |
17.7 (qualifier value) |
Preferred (foundation metadata concept) |
17.8 |
Preferred (foundation metadata concept) |
17.8 (qualifier value) |
Preferred (foundation metadata concept) |
17/22 |
Preferred (foundation metadata concept) |
17/25 |
Preferred (foundation metadata concept) |
170 |
Preferred (foundation metadata concept) |
170 (qualifier value) |
Preferred (foundation metadata concept) |
170-Hf |
Acceptable (foundation metadata concept) |
17000 |
Preferred (foundation metadata concept) |
17000 (qualifier value) |
Preferred (foundation metadata concept) |
171-Hf |
Acceptable (foundation metadata concept) |
172 |
Preferred (foundation metadata concept) |
172 (qualifier value) |
Preferred (foundation metadata concept) |
172-Hf |
Acceptable (foundation metadata concept) |
172.5 |
Preferred (foundation metadata concept) |
172.5 (qualifier value) |
Preferred (foundation metadata concept) |
1720 |
Preferred (foundation metadata concept) |
1720 (qualifier value) |
Preferred (foundation metadata concept) |
173-Hf |
Acceptable (foundation metadata concept) |
173-Ta |
Acceptable (foundation metadata concept) |
174 |
Preferred (foundation metadata concept) |
174 (qualifier value) |
Preferred (foundation metadata concept) |
174-Hf |
Acceptable (foundation metadata concept) |
174-Ta |
Acceptable (foundation metadata concept) |
175 |
Preferred (foundation metadata concept) |
175 (qualifier value) |
Preferred (foundation metadata concept) |
175-Hf |
Acceptable (foundation metadata concept) |
175-Ta |
Acceptable (foundation metadata concept) |
175-Yb |
Acceptable (foundation metadata concept) |
175.439 |
Preferred (foundation metadata concept) |
175.439 (qualifier value) |
Preferred (foundation metadata concept) |
1750 |
Preferred (foundation metadata concept) |
1750 (qualifier value) |
Preferred (foundation metadata concept) |
17500 |
Preferred (foundation metadata concept) |
17500 (qualifier value) |
Preferred (foundation metadata concept) |
176-Ta |
Acceptable (foundation metadata concept) |
176-W |
Acceptable (foundation metadata concept) |
177-Lu |
Acceptable (foundation metadata concept) |
177-Ta |
Acceptable (foundation metadata concept) |
177-W |
Acceptable (foundation metadata concept) |
177-Yb |
Acceptable (foundation metadata concept) |
17700 |
Preferred (foundation metadata concept) |
17700 (qualifier value) |
Preferred (foundation metadata concept) |
177LU-DOTA-HH1 |
Acceptable (foundation metadata concept) |
178-Ta |
Acceptable (foundation metadata concept) |
178-W |
Acceptable (foundation metadata concept) |
179 |
Preferred (foundation metadata concept) |
179 (qualifier value) |
Preferred (foundation metadata concept) |
179-Ta |
Acceptable (foundation metadata concept) |
17B-HSD deficiency |
Acceptable (foundation metadata concept) |
17G |
Preferred (foundation metadata concept) |
17G (qualifier value) |
Preferred (foundation metadata concept) |
17KGS - 17-ketogenic steroid |
Acceptable (foundation metadata concept) |
17alpha-hydroxyprogesterone aldolase |
Preferred (foundation metadata concept) |
17alpha-hydroxyprogesterone aldolase (substance) |
Preferred (foundation metadata concept) |
17beta,20alpha-hydroxy-steroid dehydrogenase |
Acceptable (foundation metadata concept) |
17beta-Hydroxyandrost-4-en-3-one decanoate |
Acceptable (foundation metadata concept) |
17p partial trisomy syndrome |
Preferred (foundation metadata concept) |
17p partial trisomy syndrome (disorder) |
Preferred (foundation metadata concept) |
17p11.2 microduplication syndrome |
Preferred (foundation metadata concept) |
17p11.2 microduplication syndrome (disorder) |
Preferred (foundation metadata concept) |
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterised by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnoea) are also frequently associated. |
Preferred (foundation metadata concept) |
17p11.2p12 microduplication syndrome |
Acceptable (foundation metadata concept) |
17p13.3 microduplication syndrome |
Preferred (foundation metadata concept) |
17p13.3 microduplication syndrome (disorder) |
Preferred (foundation metadata concept) |
17p13.3 microduplication syndrome is characterised by variable psychomotor delay and dysmorphic features. |
Preferred (foundation metadata concept) |
17q partial trisomy syndrome |
Preferred (foundation metadata concept) |
17q partial trisomy syndrome (disorder) |
Preferred (foundation metadata concept) |
17q11 deletion syndrome |
Preferred (foundation metadata concept) |
17q11 deletion syndrome (disorder) |
Preferred (foundation metadata concept) |
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterised by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. |
Preferred (foundation metadata concept) |
17q11.2 microduplication syndrome |
Preferred (foundation metadata concept) |
17q11.2 microduplication syndrome (disorder) |
Preferred (foundation metadata concept) |
17q11.2 microduplication syndrome is characterised by dysmorphic features and intellectual deficit. |
Preferred (foundation metadata concept) |
17q12 duplication syndrome |
Acceptable (foundation metadata concept) |
17q12 microdeletion syndrome |
Preferred (foundation metadata concept) |
17q12 microdeletion syndrome (disorder) |
Preferred (foundation metadata concept) |
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterised by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported. |
Preferred (foundation metadata concept) |
17q12 microduplication syndrome |
Preferred (foundation metadata concept) |
17q12 microduplication syndrome (disorder) |
Preferred (foundation metadata concept) |
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioural abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. |
Preferred (foundation metadata concept) |
17q21.31 microduplication syndrome |
Preferred (foundation metadata concept) |
17q21.31 microduplication syndrome (disorder) |
Preferred (foundation metadata concept) |
17q23.1-q23.2 duplication syndrome |
Preferred (foundation metadata concept) |
17q23.1-q23.2 duplication syndrome (disorder) |
Preferred (foundation metadata concept) |
17q23.1q23.2 microdeletion syndrome |
Preferred (foundation metadata concept) |
17q23.1q23.2 microdeletion syndrome (disorder) |
Preferred (foundation metadata concept) |
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. |
Preferred (foundation metadata concept) |
17q24-qter duplication syndrome |
Preferred (foundation metadata concept) |