104188-8
Mucopolysaccharidosis type II newborn screening panel
Active
79462-8 Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14029-0 Iduronate-2-Sulfatase
Iduronate-2-sulfate levels detect Hurler syndrome. Specimens include fibroblasts and WBC.
Source: Regenstrief Institute
Fully-Specified Name
- Component
- Iduronate-2-Sulfatase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Iduronate2Sulfatas DBS-cCnc
- Display Name
- Iduronate-2-Sulfatase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Iduronate-2-Sulfatase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 104188-8 | Mucopolysaccharidosis type II newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Iduronato-2-sulfatasa: |
| es-ES | Spanish (Spain) | Iduronato 2-Sulfatasa: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Iduronaat-2-sulfataas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Iduronate-2-sulfatase: |
| fr-FR | French (France) | Iduronate-2-sulfatase: |
| fr-BE | French (Belgium) | Iduronate-2-sulfatase: |
| it-IT | Italian (Italy) | Iduronato-2-Solfatasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | iduronaat-2-sulfatase: |
| ru-RU | Russian (Russian Federation) | Идуронат-2-сульфатаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Iduronat-2-sülfataz: |
| zh-CN | Chinese (China) | 艾杜糖-2-硫酸酯酶: Synonyms: Ⅱ Hunter 病; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mL | Example UCUM Units |
104190-4 Mucopolysaccharidosis type II comment [Text] in DBS Narrative
Fully-Specified Name
- Component
- Mucopolysaccharidosis type II comment
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Mucopolysaccharidosis tp II comment DBS
- Display Name
- Mucopolysaccharidosis type II comment Nar (DBS)
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis type II comment, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104188-8 | Mucopolysaccharidosis type II newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Comentario a mucopolisacaridosis tipo II: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi di tipo II,commento: Synonyms: Chimica Commento mucopolisaccaridosi di tipo II, Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | mucopolysacharidose type 2: Synonyms: MPS MPS 2; |
104189-6 Mucopolysaccharidosis type II newborn screen interpretation newborn screen interpretation
Fully-Specified Name
- Component
- Mucopolysaccharidosis type II newborn screen interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Mucopolysaccharidosis II DBS-Imp
- Display Name
- Mucopolysaccharidosis type II newborn screen interpretation (DBS) [Interp]
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis type II newborn screen interpretation, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
Example Answer List LL835-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright 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 aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemia Copyright 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 biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect Copyright 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 deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type I Copyright 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 II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria Copyright 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 | |
| Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemia Copyright 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 | |
| Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | LA21165-8 | ||
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemia Copyright 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-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab disease Copyright 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 disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) | SCID | LA12566-8 | |
| Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosis Copyright 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 disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | GLA | LA14036-0 | |
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | GAA | LA14037-8 | |
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | GALC | LA14038-6 | |
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | GBA | LA14039-4 | |
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | ASM | LA14040-2 | |
| Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease | CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophy Copyright 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 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104188-8 | Mucopolysaccharidosis type II newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Interpretación del cribado de mucopolisacaridosis tipo II en recién nacidos: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi di tipo II,interpretazione screening neonatale: Synonyms: Chimica Impressione/interpretazione di studio Interpretazione screening neonatale di mucopolisaccaridosi di tipo II Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | screening van pasgeborene op mucopolysacharidose type 2 interpretatie: Synonyms: MPS MPS 2; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.