104192-0
Guanidinoacetate methyltransferase deficiency newborn screen interpretation
Active
Fully-Specified Name
- Component
- Guanidinoacetate methyltransferase deficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- GAMT DBS-Imp
- Display Name
- Guanidinoacetate methyltransferase deficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Guanidinoacetate methyltransferase deficiency, Dried blood spot
Example Answer List: LL835-0
Source: Regenstrief Institute| Answer | Code | Score | Answer ID |
|---|---|---|---|
| NoneCopyright http://snomed.info/sct ID:260413007 None (qualifier value) Screen time |
LA137-2 | ||
| Hearing lossCopyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduriaCopyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-MethylbutyrylglycinuriaCopyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiencyCopyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | 3-MCC | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal)Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | 3-MCC (mat) | LA12467-9 | |
| 3-Methylglutaconic aciduriaCopyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemiaCopyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | 5-OXO | LA12469-5 | |
| Argininemia | ARG | LA21161-7 | |
| Argininosuccinic aciduria | ASA | LA21162-5 | |
| Biopterin defect in cofactor biosynthesisCopyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regenerationCopyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiencyCopyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiencyCopyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A diseaseCopyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B diseaseCopyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C diseaseCopyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D diseaseCopyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E diseaseCopyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiencyCopyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type ICopyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type IICopyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiencyCopyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiencyCopyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiencyCopyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defectCopyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | CUD | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal)Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | CUD (mat) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiencyCopyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiencyCopyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathyCopyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemiaCopyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type ICopyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | GA-1 | LA12493-5 | |
| Glutaric acidemia (maternal)Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | GA-1 (mat) | LA12494-3 | |
| Glutaric acidemia type IICopyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| HomocystinuriaCopyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeCopyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| HistidinemiaCopyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduriaCopyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | HMG | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign)Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | H-PHE | LA12500-7 | |
| HyperlysinemiaCopyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retinaCopyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| ValinemiaCopyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| IsobutyrylglycinuriaCopyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemiaCopyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemiaCopyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemiaCopyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiencyCopyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiencyCopyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| HypermethioninemiaCopyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine diseaseCopyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiencyCopyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemiaCopyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | MUT | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy)Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | NKHG | LA12516-3 | |
| HydroxyprolinemiaCopyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiencyCopyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiencyCopyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuriaCopyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type ICopyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type IICopyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemiaCopyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiencyCopyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiencyCopyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type ICopyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type IICopyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type IIICopyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiencyCopyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiencyCopyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasiaCopyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosisCopyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidismCopyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidismCopyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiencyCopyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiencyCopyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiencyCopyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | LA21165-8 | ||
| Hb C-carrierCopyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrierCopyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrierCopyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrierCopyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-diseaseCopyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemiaCopyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemiaCopyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemiaCopyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-diseaseCopyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemiaCopyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb SS-disease (sickle cell anemia)Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S beta-thalassemiaCopyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-diseaseCopyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-diseaseCopyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-diseaseCopyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab diseaseCopyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) | LA12619-5 | ||
| Hb S plus Hb other than A,C,D,E,O-Arab diseaseCopyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, SCopyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIVCopyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiencyCopyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes. |
SCID | LA12566-8 | |
| Thyroid-binding globulin deficiencyCopyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosisCopyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) | TOXO | LA12568-4 | |
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| Fabry diseaseCopyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance. |
GLA | LA14036-0 | |
| Pompe diseaseCopyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance. |
GAA | LA14037-8 | |
| Krabbe diseaseCopyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) Krabbe disease is an inherited disorder that affects the nervous system. This condition is characterized by severe muscle weakness, slow mental and physical development, vision loss, and seizures. Mutations in the GALC gene cause Krabbe disease; it has an autosomal recessive pattern of inheritance. |
GALC | LA14038-6 | |
| Gaucher diseaseCopyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance. |
GBA | LA14039-4 | |
| Niemann Pick disease A/BCopyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) Niemann-Pick disease is an inherited disorder in which the body in unable to process fats and cholesterol properly. People with this condition have some combination of the following features: failure to thrive, an enlarged liver and spleen, neurological problems, frequent lung infections, an increased risk of abnormal blood clots, developmental delay, seizures, and poor muscle tone. Mutations in the SMPD1 gene causes Niemann-Pick disease; it has an autosomal recessive pattern of inheritance. |
ASM | LA14040-2 | |
| Hb H-diseaseCopyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| HemoglobinopathiesCopyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth. |
CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophyCopyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type ICopyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiencyCopyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiencyCopyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiencyCopyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophyCopyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) | SMA | LA22279-6 | |
| Deficiency of guanidinoacetate methyltransferase (disorder) | LA34469-9 | ||
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Deficiencia de guanidinoacetato metiltransferasa: |
| it-IT | Italian (Italy) | Deficit di guanidinoacetato-metiltransferasi: Synonyms: Chimica Deficit di GAMT Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | deficiëntie van guanidinoacetaatmethyltransferase: Synonyms: guanidinoacetaatmethyltransferasedeficiëntie |
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Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright