Members |
acceptabilityId |
16p12.2 microdeletion syndrome (disorder) |
Preferred (foundation metadata concept) |
16p13.11 microdeletion syndrome |
Preferred (foundation metadata concept) |
16p13.11 microdeletion syndrome (disorder) |
Preferred (foundation metadata concept) |
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. |
Preferred (foundation metadata concept) |
16p13.11 microduplication syndrome |
Preferred (foundation metadata concept) |
16p13.11 microduplication syndrome (disorder) |
Preferred (foundation metadata concept) |
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. |
Preferred (foundation metadata concept) |
16p13.2 microdeletion syndrome |
Acceptable (foundation metadata concept) |
16p13.3 microduplication syndrome |
Preferred (foundation metadata concept) |
16p13.3 microduplication syndrome (disorder) |
Preferred (foundation metadata concept) |
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. |
Preferred (foundation metadata concept) |
16q partial monosomy syndrome |
Preferred (foundation metadata concept) |
16q partial monosomy syndrome (disorder) |
Preferred (foundation metadata concept) |
16q partial trisomy syndrome |
Preferred (foundation metadata concept) |
16q partial trisomy syndrome (disorder) |
Preferred (foundation metadata concept) |
16q24.1 microdeletion syndrome |
Preferred (foundation metadata concept) |
16q24.1 microdeletion syndrome (disorder) |
Preferred (foundation metadata concept) |
16q24.3 microdeletion syndrome |
Preferred (foundation metadata concept) |
16q24.3 microdeletion syndrome (disorder) |
Preferred (foundation metadata concept) |
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. |
Preferred (foundation metadata concept) |
16x/day |
Acceptable (foundation metadata concept) |
17 |
Preferred (foundation metadata concept) |
17 (AJCC) |
Acceptable (foundation metadata concept) |
17 (UICC) |
Acceptable (foundation metadata concept) |
17 (qualifier value) |
Preferred (foundation metadata concept) |
17 Hydroxyprogesterone measurement |
Preferred (foundation metadata concept) |
17 Hydroxyprogesterone measurement (procedure) |
Preferred (foundation metadata concept) |
17 Hydroxyprogesterone measurement, amniotic fluid |
Preferred (foundation metadata concept) |
17 Hydroxyprogesterone measurement, amniotic fluid (procedure) |
Preferred (foundation metadata concept) |
17 Hydroxyprogesterone measurement, serum |
Preferred (foundation metadata concept) |
17 Hydroxyprogesterone measurement, serum (procedure) |
Preferred (foundation metadata concept) |
17 OHP - 17-hydroxyprogesterone |
Acceptable (foundation metadata concept) |
17 alpha-Hydroxylase deficiency |
Acceptable (foundation metadata concept) |
17 alpha-Hydroxyprogesterone aldolase deficiency |
Preferred (foundation metadata concept) |
17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) |
Preferred (foundation metadata concept) |
17 alpha-hydroxyprogesterone |
Preferred (foundation metadata concept) |
17 alpha-hydroxyprogesterone |
Acceptable (foundation metadata concept) |
17 alpha-hydroxyprogesterone (substance) |
Preferred (foundation metadata concept) |
17 beta-estradiol (substance) |
Preferred (foundation metadata concept) |
17 beta-estradiol preparation (product) |
Preferred (foundation metadata concept) |
17 beta-hydroxysteroid dehydrogenase |
Acceptable (foundation metadata concept) |
17 beta-oestradiol |
Preferred (foundation metadata concept) |
17 beta-oestradiol preparation |
Preferred (foundation metadata concept) |
17,18,21-trihydroxypregn-4-ene-3,11,20-trione |
Acceptable (foundation metadata concept) |
17,21-dihydroxypregnenolone |
Preferred (foundation metadata concept) |
17,21-dihydroxypregnenolone (substance) |
Preferred (foundation metadata concept) |
17,21-hydroxyprogesterone |
Acceptable (foundation metadata concept) |
17-Beta-estriol |
Preferred (foundation metadata concept) |
17-Beta-estriol (substance) |
Preferred (foundation metadata concept) |
17-Hydroxycorticosteroid |
Preferred (foundation metadata concept) |
17-Hydroxycorticosteroid (substance) |
Preferred (foundation metadata concept) |
17-Hydroxyketosteroids measurement |
Preferred (foundation metadata concept) |
17-Hydroxyketosteroids measurement (procedure) |
Preferred (foundation metadata concept) |
17-Hydroxypregnenolone measurement |
Preferred (foundation metadata concept) |
17-Hydroxypregnenolone measurement (procedure) |
Preferred (foundation metadata concept) |
17-KGS measurement |
Acceptable (foundation metadata concept) |
17-KS measurement |
Acceptable (foundation metadata concept) |
17-KS measurement, fractionation |
Acceptable (foundation metadata concept) |
17-KSR deficiency |
Acceptable (foundation metadata concept) |
17-Ketogenic steroid |
Preferred (foundation metadata concept) |
17-Ketogenic steroid (substance) |
Preferred (foundation metadata concept) |
17-Ketogenic steroids measurement |
Preferred (foundation metadata concept) |
17-Ketogenic steroids measurement (procedure) |
Preferred (foundation metadata concept) |
17-Ketosteroid reductase deficiency |
Acceptable (foundation metadata concept) |
17-Ketosteroids |
Acceptable (foundation metadata concept) |
17-Ketosteroids measurement |
Preferred (foundation metadata concept) |
17-Ketosteroids measurement (procedure) |
Preferred (foundation metadata concept) |
17-Ketosteroids measurement, fractionation, urine |
Preferred (foundation metadata concept) |
17-Ketosteroids measurement, fractionation, urine (procedure) |
Preferred (foundation metadata concept) |
17-Ketosteroids measurement, total |
Preferred (foundation metadata concept) |
17-Ketosteroids measurement, total (procedure) |
Preferred (foundation metadata concept) |
17-O-deacetylvindoline O-acetyltransferase |
Preferred (foundation metadata concept) |
17-O-deacetylvindoline O-acetyltransferase (substance) |
Preferred (foundation metadata concept) |
17-OHCS measurement |
Acceptable (foundation metadata concept) |
17-Oxogenic steroid |
Acceptable (foundation metadata concept) |
17-Oxosteroid |
Preferred (foundation metadata concept) |
17-Oxosteroid (substance) |
Preferred (foundation metadata concept) |
17-alpha-18,21-trihydroxypregn-4-ene-3,20-dione |
Acceptable (foundation metadata concept) |
17-alpha-hydroxypregnenolone |
Acceptable (foundation metadata concept) |
17-beta estradiol |
Acceptable (foundation metadata concept) |
17-hydrocorticosteroid |
Acceptable (foundation metadata concept) |
17-hydroxycorticoid |
Acceptable (foundation metadata concept) |
17-hydroxycorticosteroid |
Preferred (foundation metadata concept) |
17-hydroxycorticosteroid (substance) |
Preferred (foundation metadata concept) |
17-hydroxycorticosteroid measurement |
Preferred (foundation metadata concept) |
17-hydroxycorticosteroid measurement (procedure) |
Preferred (foundation metadata concept) |
17-hydroxylase |
Acceptable (foundation metadata concept) |
17-hydroxypregnenolone |
Preferred (foundation metadata concept) |
17-hydroxypregnenolone (substance) |
Preferred (foundation metadata concept) |
17-hydroxyprogesterone |
Preferred (foundation metadata concept) |
17-hydroxyprogesterone (substance) |
Preferred (foundation metadata concept) |
17-ketogenic steroid |
Preferred (foundation metadata concept) |
17-ketogenic steroid (substance) |
Preferred (foundation metadata concept) |
17-ketogenic steroids level above reference range |
Preferred (foundation metadata concept) |
17-ketogenic steroids level above reference range (finding) |
Preferred (foundation metadata concept) |
17-ketogenic steroids level below reference range |
Preferred (foundation metadata concept) |
17-ketogenic steroids level below reference range (finding) |
Preferred (foundation metadata concept) |
17-ketogenic steroids within reference range |
Preferred (foundation metadata concept) |
17-ketogenic steroids within reference range (finding) |
Preferred (foundation metadata concept) |
17-ketosteroid |
Preferred (foundation metadata concept) |
17-ketosteroid (substance) |
Preferred (foundation metadata concept) |