79563-3
Mucopolysaccharidosis type I newborn screening panel
Active
55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14016-7 Alpha-L-iduronidase
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Alpha-L iduronidase
Fully-Specified Name
- Component
- Alpha-L-iduronidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-L-Iduronidase DBS-cCnc
- Display Name
- Alpha-L-iduronidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Alpha-L-iduronidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Alpha-Iduronidase /BT |
| es-ES | Spanish (Spain) | Alfa-L-iduronidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alfa-L-iduronidasa: |
| et-EE | Estonian (Estonia) | Alfa-L-iduronidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alpha-L-iduronidase: |
| fr-BE | French (Belgium) | Alpha-L-iduronidase: |
| fr-FR | French (France) | Alpha L-idurodinase: |
| it-IT | Italian (Italy) | Alfa-L-iduronidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alfa-L-iduronidase: |
| pt-BR | Portuguese (Brazil) | Alfa-L-iduronidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Альфа-L-идуронидазы: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Alfa-L-iduronidaz: |
| zh-CN | Chinese (China) | Alpha-L-艾杜糖苷酶: Synonyms: Alpha-L-艾杜糖醛酸苷酶; |
Example Units
| Unit | Source |
|---|---|
| umol/h/L | Example UCUM Units |
79564-1 Mucopolysaccharidosis type I newborn screen interpretation
Term Description
This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to Mucopolysaccharidosis type I (MPS I).
Source: Regenstrief LOINC
Part Descriptions
LP203226-8 Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i]
Source: Genetic Home Reference, National Library of Medicine
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- MPS I DBS-Imp
- Display Name
- Mucopolysaccharidosis type I (DBS) [Interp]
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis Type I, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Mucopolisacaridosis tipo I: |
| es-ES | Spanish (Spain) | Mucopolisacaridosis tipo I: |
| fr-FR | French (France) | Mucopolysaccharidose type 1: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I: Synonyms: MPS soort |
| tr-TR | Turkish (Turkey) | Mukopolisakkaridozis tip I: |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型: Synonyms: I 型 全血斑点(滤纸); |
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.
79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion
Part Descriptions
LP203226-8 Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i]
Source: Genetic Home Reference, National Library of Medicine
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- MPS I NBS comment
- Display Name
- Mucopolysaccharidosis type I newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis Type I newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Mucopolisacaridosis tipo I cribado neonatal comentario-discusión: |
| es-ES | Spanish (Spain) | Mucopolisacaridosis tipo I screnning de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Mucopolysaccharidose type 1 dépistage nouveau né commentaire-discussion: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1, screening neonatale, commenti-discussione: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I screening van pasgeborene commentaar-discussie: Synonyms: MPS soort |
| tr-TR | Turkish (Turkey) | Mukopolisakkaridozis tip I yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型 新生儿筛查注释-讨论: Synonyms: Asympt I 型 SCN 全血斑点(滤纸); |