Genetic disorder carrier (finding)
| Code | 47461006 |
|---|---|
| Semantic tag | finding |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
29679002Carrier of disorder
finding
750601000000104Antenatal screening shows carrier of significant haemoglobinopathy including sickle cell or thalassaemia
finding
384511000000103Antenatal screening shows non significant carrier of sickle cell or thalassaemia
finding
750571000000106Antenatal screening shows non significant haemoglobinopathy carrier
finding
384671000000109Antenatal screening shows significant carrier of sickle cell or thalassaemia
finding
559151051000119108Carrier of Bloom syndrome
finding
98311000119105Carrier of Canavan disease
finding
66781000119102Carrier of Cowden syndrome
finding
494884791000119105Carrier of Fanconi anaemia group C
finding
697788021000119105Carrier of Gaucher disease
finding
754097021000119101Carrier of Joubert syndrome with oculorenal defect
finding
809087311000119106Carrier of Nebulin-related nemaline myopathy
finding
964190521000119101Carrier of Niemann-Pick disease type A
finding
191450801000119101Carrier of Niemann-Pick disease type B
finding
218521311000119109Carrier of Usher syndrome type 1F
finding
864990181000119100Carrier of Usher syndrome type 2
finding
906902831000119100Carrier of Usher syndrome type 3
finding
66681000119107Carrier of Von Hippel-Lindau syndrome
finding
66511000119102Carrier of chromosome translocation
finding
66541000119103Carrier of congenital cystic kidney disease
finding
477380501000119109Carrier of dihydrolipoamide dehydrogenase deficiency
finding
66461000119100Carrier of familial combined hyperlipidaemia
finding
98421000119108Carrier of familial dysautonomia
finding
66481000119109Carrier of familial hypercholesterolaemia
finding
66661000119103Carrier of fragile X chromosome
finding
1381949006Carrier of genetic marker for cardiomyopathy
finding
66971000119103Carrier of haemochromatosis
finding
66751000119109Carrier of haemoglobinopathy disorder
finding
2365481000000106Carrier of hereditary persistence of fetal haemoglobin
finding
286481000119102Carrier of heritable cancer
finding
90671000119109Carrier of high risk cancer mutation gene
finding
584836011000119107Carrier of maple syrup urine disease type IB
finding
195953191000119108Carrier of mucolipidosis type IV
finding
137511000119103Carrier of muscular dystrophy
finding
481462461000119102Carrier of spinal muscular atrophy
finding
66921000119104Carrier of spinocerebellar ataxia
finding
66721000119101Carrier of von Willebrand disease
finding
302571000000101Newborn blood spot screening programme, carrier of other haemoglobin type
finding