| Component ID | Component Name | Base Name | Common Name | External Name | Cerner Result PDM |
|---|
| 3047803246.0 |
LEBER CONGENITAL AMAUROSIS 2 |
LEBER |
LEBER CONGENITAL AMAUROSIS 2 |
|
225281EP |
| 3047804565.0 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 |
RHCHPUTY1 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 |
|
225281IG |
| 3047803886.0 |
ORNITHINE AMINOTRANSFERASE DEFICIENCY |
ORNITHAMDEF |
ORNITHINE AMINOTRANSFERASE DEFICIENCY |
|
225281HE |
| 3047801794.0 |
CHRONIC GRANULOMATOUS DISEASE, CYBA-REL |
CGD |
CHRONIC GRANULOMATOUS DISEASE, CYBA REL |
|
225281BB |
| 3047804208.0 |
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC |
POLYCYSKID |
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC |
|
225281HK |
| 3047803445.0 |
METACHROMATIC LEUKODYSTROPHY, ARSA |
METALEUKO |
METACHROMATIC LEUKODYSTROPHY, ARSA |
|
225281FM |
| 3047800786.0 |
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE |
3PHOSPHODD |
3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY |
|
225281E |
| 3047802112.0 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 |
DEAFAUTORE77 |
DEAFNESS, AUTOSOMAL RECESSIVE 77 |
|
225281CE |
| 3047802635.0 |
GLYCOGEN STORAGE DISEASE, TYPE 1A |
GLYCSD1A |
GLYCOGEN STORAGE DISEASE, TYPE 1A |
|
225281DK |
| 3047805478.0 |
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA |
FAMDYSA |
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA |
|
225281CQ |
| 3047801812.0 |
CITRULLINEMIA, TYPE 1 |
CITRULLINEMI |
CITRULLINEMIA, TYPE 1 |
|
225281BF |
| 3047805550.0 |
LIPOAMIDE DEHYDROGENASE DEFICIENCY |
LDD |
LIPOAMIDE DEHYDROGENASE DEFICIENCY |
|
225281FC |
| 3047803421.0 |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY |
MEGLEUKENCE |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY |
|
225281FL |
| 3047805363.0 |
ABETALIPOPROTEINEMIA |
ABETALIPO |
ABETALIPOPROTEINEMIA |
|
225281G |
| 3047805407.0 |
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME |
HORBLOOMSYN |
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME |
|
225281AO |
| 3047800962.0 |
ALPORT SYNDROME, COL4A3-RELATED |
ALPORTSY |
ALPORT SYNDROME, COL4A3 RELATED |
|
225281R |
| 3047804530.0 |
RENAL TUBULAR ACIDOSIS AND DEAFNESS |
RENTUAC |
RENAL TUBULAR ACIDOSIS AND DEAFNESS |
|
225281IB |
| 3047803418.0 |
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF |
ACYLCOA |
MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF |
|
225281FK |
| 3047801318.0 |
BATTEN DISEASE |
BATTEN |
BATTEN DISEASE |
|
225281AK |
| 3047805657.0 |
HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY |
SMA |
SMA, ATROPHY |
|
225281IS |
| 3047805329.0 |
ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT |
|
225281JK |
| 3047804557.0 |
RETINITIS PIGMENTOSA 26 |
RETPIG26 |
RETINITIS PIGMENTOSA 26 |
|
225281ID |
| 3047801993.0 |
CORTICOSTERONE METHYLOXIDASE DEFICIENCY |
CORTMETHDEF |
CORTICOSTERONE METHYLOXIDASE DEFICIENCY |
|
225281BX |
| 3047800891.0 |
ADRENOLEUKODYSTROPHY |
ADRENOLEUK |
ADRENOLEUKODYSTROPHY |
|
225281M |
| 3047803650.0 |
MULTIPLE SULPHATASE DEFICIENCY |
MULTSUPHDEF |
MULTIPLE SULPHATASE DEFICIENCY |
|
225281GK |
| 3047805189.0 |
USHER SYNDROME, TYPE 1F |
USHT1F |
USHER SYNDROME, TYPE 1F |
|
225281JB |
| 3047803502.0 |
METHYLMALONIC ACIDURIA AND HOMOCYST CBIC |
MEACHOCBLC |
MEACHOCBLC |
|
225281FO |
| 3047805526.0 |
INCLUSION BODY MYOPATHY 2 |
IBM2 |
INCLUSION BODY MYOPATHY 2 |
|
225281EI |
| 3047802638.0 |
GLYCOGEN STORAGE DISEASE, TYPE 3 |
NTRAGSDT3 |
GLYCOGEN STORAGE DISEASE, TYPE 3 |
|
225281DN |
| 3047802897.0 |
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR |
HOMOCYSURD |
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR |
|
225281EB |
| 3047802779.0 |
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED |
NTRAHERPUD |
HERMANSKY PUDLAK SYNDROME, HPS3 RELATED |
|
225281DY |
| 3047803954.0 |
PANEL NOTES |
PANELNOTE |
PANEL NOTES |
|
225043B |
| 3047805629.0 |
REPORT NOTES |
REPORTNOTE |
REPORTNOTE, NOTES |
|
225043C |
| 3047805609.0 |
PDF REPORT |
PDF |
PDF, REPORT |
|
225043E |
| 3047803051.0 |
INFANTILE CEREBRAL AND CEREBELLAR ATROPH |
CEREBRAL |
INFANTILE CEREBRAL AND CEREBELLAR ATROPH |
|
225281EJ |
| 3047804558.0 |
RETINITIS PIGMENTOSA 28 |
RETPIG28 |
RETINITIS PIGMENTOSA 28 |
|
225281IE |
| 3047805191.0 |
USHER SYNDROME, TYPE 3 |
USHT3 |
USHER SYNDROME, TYPE 3 |
|
225281JD |
| 3047802641.0 |
GLYCOGEN STORAGE DISEASE, TYPE 7 |
NTRAGSDT7 |
GLYCOGEN STORAGE DISEASE, TYPE 7 |
|
225281DQ |
| 3047801196.0 |
ASPARAGINE SYNTHETASE DEFICIENCY |
ASPARAGINESD |
ASPARAGINE SYNTHETASE DEFICIENCY |
|
225281Y |
| 3047804252.0 |
PRIMARY CILIARY DYSKINESIA DNAI2-RELATED |
PCDDNAI2 |
PRIMARY CILIARY DYSKINESIA, DNAI2 RELATED |
Primary Ciliary Dyskinesia, DNAI2-Related |
225281HQ |
| 3047804258.0 |
PRIMARY HYPEROXALURIA, TYPE 3 |
PRHYTY3 |
PRIMARY HYPEROXALURIA, TYPE 3 |
|
225281HT |
| 3047804077.0 |
PHENYLKETONURIA |
PHENYLKE |
PHENYLKETONURIA |
|
225281HI |
| 3047805420.0 |
CEREBROTENDINOUS XANTHOMATOSIS |
CERBROTEND |
CEREBROTENDINOUS XANTHOMATOSIS |
|
225281AW |
| 3047805391.0 |
ATAXIA-TELANGIECTASIA |
ATAXIATELAN |
ATAXIA TELANGIECTASIA |
|
225281AB |
| 3047805290.0 |
WOLMAN DISEASE |
WOLDIS |
WOLMAN DISEASE |
|
225281JH |
| 3047803857.0 |
OMENN SYNDROME |
OMENSYN |
OMENN SYNDROME |
|
225281HD |
| 3047804212.0 |
PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE |
PONRARS2 |
PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE |
|
225281HN |
| 3047801220.0 |
AUTOIMMUNE POLYGLANDULAR SYNDROME |
AUTOPOLYSYN |
AUTOIMMUNE POLYGLANDULAR SYNDROME |
|
225281HL |
| 3047801967.0 |
CONGENITAL DISORDER OF GLYCOSYLATION 1A |
CONDOGLYC1A |
CONGENITAL DISORDER OF GLYCOSYLATION 1A |
|
225281BN |
| 3047804251.0 |
PRIMARY CILIARY DYSKINESIA DNAI1-RELATED |
PCDDNAI1 |
PRIMARY CILIARY DYSKINESIA, DNAI1 RELATED |
Primary Ciliary Dyskinesia, DNAI1-Related |
225281HP |
| 3047805541.0 |
ISOVALERIC ACIDEMIA |
ISOVALERIC |
ISOVALERIC ACIDEMIA |
|
225281EK |
| 3047805476.0 |
FACTOR XI DEFICIENCY |
FACTORXI |
FACTOR XI DEFICIENCY |
|
225281CP |
| 3047803636.0 |
MUCOPOLYSACCHARIDOSIS, TYPE I |
MUCOPOLYSAC |
MUCOPOLYSACCHARIDOSIS, TYPE I |
|
225281GB |
| 3047805414.0 |
CANAVAN DISEASE |
CANAVAN |
CANAVAN DISEASE |
|
225281AP |
| 3047804913.0 |
TAY-SACHS DISEASE |
TAYSACHSDIS |
TAY SACHS DISEASE |
|
225281IW |
| 3047801966.0 |
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE |
CONGAMETRHO |
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE |
|
225281BM |
| 3047803537.0 |
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC |
MITOMYOSID |
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC |
|
225281FX |
| 3047805190.0 |
USHER SYNDROME, TYPE 2A |
USHT2A |
USHER SYNDROME, TYPE 2A |
|
225281JC |
| 3047805483.0 |
FAMILIAL MEDITERRANEAN FEVER |
FAMMED |
FAMILIAL MEDITERRANEAN FEVER |
|
225281CU |
| 3047805330.0 |
ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT |
|
225281JL |
| 3047801369.0 |
BETA-HEMOGLOBINOPATHIES |
BHEMOGLOB |
BETA HEMOGLOBINOPATHIES |
|
225281AL |
| 3047805689.0 |
WALKER-WARBURG SYNDROME |
WWSYND |
WWSYND, SYNDROME |
|
225281JF |
| 3047805331.0 |
ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT |
ZELLWEGE |
ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT |
|
225281JM |
| 3047801974.0 |
CONGENITAL INSENSIVITY TO PAIN WITH ANHI |
CONGINSPWA |
CONGENITAL INSENSIVITY TO PAIN WITH ANHI |
|
225281BR |
| 3047802001.0 |
COSTEFF SYNDROME |
COSTEFFSYN |
COSTEFF SYNDROME |
|
225281BY |
| 3047805495.0 |
NATERA FOOTNOTES |
FOOTNOTES |
NATERA FOOTNOTES |
|
225043D |
| 3047802637.0 |
GLYCOGEN STORAGE DISEASE, TYPE 2 |
NTRAGSDT2 |
GLYCOGEN STORAGE DISEASE, TYPE 2 |
|
225281DM |
| 3047805651.0 |
SMITH-LEMLI-OPITZ SYNDROME |
SLOS |
SLOS, SYNDROME |
|
225281IR |
| 3047801217.0 |
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP |
AUTISMSPEC |
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP |
|
225281AC |
| 3047803747.0 |
NIEMANN-PICK DISEASE, TYPES A/B |
NIEMPICKAB |
NIEMANN PICK DISEASE, TYPES A B |
Niemann-Pick Disease, Types A/B |
225281GW |
| 3047802418.0 |
FANCONI ANEMIA, GROUP A |
FANCONIANGRA |
FANCONI ANEMIA, GROUP A |
|
225281CW |
| 3047804559.0 |
RETINITIS PIGMENTOSA 59 |
RETPIG59 |
RETINITIS PIGMENTOSA 59 |
|
225281IF |
| 3047803287.0 |
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B |
MUSCDYST2B |
LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B |
|
225281EX |
| 3047802247.0 |
DYSKERATOSIS CONGENITA |
DYSKERCONG |
DYSKERATOSIS CONGENITA |
|
225281CG |
| 3047802640.0 |
GLYCOGEN STORAGE DISEASE, TYPE 5 |
NTRAGSDT5 |
GLYCOGEN STORAGE DISEASE, TYPE 5 |
|
225281DP |
| 3047805399.0 |
BARDET-BIEDL SYNDROME, BBS2-RELATED |
BBS2 |
BARDET BIEDL SYNDROME, BBS2 RELATED |
|
225281AF |
| 3047804556.0 |
RETINITIS PIGMENTOSA 25 |
RETPIG25 |
RETINITIS PIGMENTOSA 25 |
|
225281IC |
| 3047803536.0 |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 |
MITOCHONCOM |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 |
|
225281FV |
| 3047804250.0 |
PRIMARY CILIARY DYSKINESIA DNAH5-RELATED |
PCDDNAH5 |
PRIMARY CILIARY DYSKINESIA, DNAH5 RELATED |
Primary Ciliary Dyskinesia, DNAH5-Related |
225281HO |
| 3047802392.0 |
FACTOR IX DEFICIENCY |
FACTORIXDEF |
FACTOR IX DEFICIENCY |
|
225281CO |
| 3047802774.0 |
HEREDITARY SPASTIC PARAPARESIS, TYPE 49 |
NTRAHSPT49 |
HEREDITARY SPASTIC PARAPARESIS, TYPE 49 |
|
225281DW |
| 3047803765.0 |
NON-SYNDROMIC HEARING LOSS, GJB2-RELATED |
NONSYNDRHL |
NON SYNDROMIC HEARING LOSS, GJB2 RELATED |
|
225281HA |
| 3047803894.0 |
OSTEOPETROSIS, INFANTILE MALIGNANT |
OSTPETROSIS |
OSTEOPETROSIS, INFANTILE MALIGNANT |
|
225281HG |
| 3047801780.0 |
CHOREOACANTHOCYTOSIS |
CHOREOACAN |
CHOREOACANTHOCYTOSIS |
|
225281AZ |
| 3047802411.0 |
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR |
HYPCHFALDLR |
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR |
|
225281CR |
| 3047803631.0 |
MUCOLIPIDOSIS, TYPE IV |
MUCOLIPID |
MUCOLIPIDOSIS, TYPE IV |
|
225281GA |
| 3047805457.0 |
CYSTINOSIS |
CYSTINOSIS |
CYSTINOSIS |
|
225281CC |
| 3047800852.0 |
ACUTE INFANTILE LIVER FAILURE |
ACINFLIVFAIL |
ACUTE INFANTILE LIVER FAILURE |
|
225281K |
| 3047803535.0 |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 |
MITOCHONCOM |
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 |
|
225281FU |
| 3047801976.0 |
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE |
CONMYASYNRA |
CONGENITAL MYASTHENIC SYNDROME, RAPSN RE |
|
225281BT |
| 3047805148.0 |
TYROSINEMIA, TYPE I |
TYROTY1 |
TYROSINEMIA, TYPE I |
|
225281IX |
| 3047803399.0 |
MAPLE SYRUP URINE DISEASE, TYPE 1B |
MAPLEUR |
MAPLE SYRUP URINE DISEASE, TYPE 1B |
|
225281FI |
| 3047805505.0 |
GAUCHER DISEASE |
GAUCHER |
GAUCHER DISEASE |
|
225281DD |
| 3047800961.0 |
ALPHA-THALASSEMIA |
ATHALASS |
ALPHA THALASSEMIA |
|
225281P |
| 3047805455.0 |
CYSTIC FIBROSIS |
CYSTICFIB |
CYSTIC FIBROSIS |
|
225281CB |
| 3047802307.0 |
ENHANCED S-CONE SYNDROME |
ENHASCONSY |
ENHANCED S CONE SYNDROME |
|
225281CL |
| 3047802242.0 |
DUCHENNE/BECKER MUSCULAR DYSTROPHY |
DUCHBECKMD |
DUCHENNE BECKER MUSCULAR DYSTROPHY |
|
225281CF |
| 3047805543.0 |
JOUBERT SYNDROME 2 |
JOUBERTSY2 |
JOUBERT SYNDROME 2 |
|
225281EL |
| 3047803691.0 |
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY |
MYPGASINTENC |
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY |
|
225281GM |
| 3047805503.0 |
GALACTOSEMIA |
GALACTOSEMIA |
GALACTOSEMIA |
|
225281DC |
| 3047802639.0 |
GLYCOGEN STORAGE DISEASE, TYPE 4 |
NTRAGSDT4 |
GLYCOGEN STORAGE DISEASE, TYPE 4 |
|
225281DO |
| 3047805497.0 |
FRAGILE X SYNDROME |
FRAGILEX |
FRAGILE X SYNDROME |
|
225281CZ |
| 3047802419.0 |
FANCONI ANEMIA, GROUP C |
FANCONIANGRC |
FANCONI ANEMIA, GROUP C |
|
225281CX |
| 3047802281.0 |
EHLERS-DANLOS SYNDROME, TYPE VIIC |
EHLDANSYNT93 |
EHLERS DANLOS SYNDROME, TYPE VIIC |
|
225281CI |
| 3047805694.0 |
WILSON DISEASE |
WILSONDIS |
WILSONDIS, DISEASE |
|
225281JG |
| 3047805581.0 |
NEMALINE MYOPATHY |
NEMALINEMYO |
NEMALINEMYO, MYOPATHY |
|
225281GP |
| 3047805481.0 |
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM |
FAMHYPER |
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM |
|
225281CT |
| 3047803518.0 |
MICROPHTHALMIA/ANOPHTHALMIA |
MICROPHANO |
MICROPHTHALMIA ANOPHTHALMIA |
|
225281FT |
| 3047804538.0 |
REPORT SUMMARY |
REPRTSUM |
REPORT SUMMARY |
|
225043A |
| 3047804213.0 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A |
PONTYPE1A |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A |
|
225281HM |
| 3047804214.0 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
PONTYPE2D |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
|
225281HU |
| 3047801645.0 |
CARNITINE PALMITOYLTRANSFERASE II DEF |
CPTDEF |
CARNITINE PALMITOYLTRANSFERASE II DEF |
|
225281AT |
