Version 2.77

Fully-Specified Name

Component
Lysosomal storage disorders suspected
Property
Prid
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
LSD suspected DBS
Display Name
Lysosomal storage disorders suspected Nom (DBS)
Consumer Name Alpha Get Info
Lysosomal storage disorders suspected, Dried blood spot

Preferred Answer List: LL1043-0

Source: Regenstrief Institute
Answer Code Score Answer ID
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.

 LA14036-0
Pompe diseaseCopyright http://snomed.info/sct ID:274864009 Glycogen storage disease, type II (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.

 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.

 LA14038-6
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.

 LA14040-2
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.

 LA14039-4
Mucopolysaccharidosis type ICopyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) LA25797-4

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.61
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
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) Sospecha de trastornos de almacenamiento lisosomal:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Se sospecha de trastornos por almacenamiento lisosómico:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR French (France) Maladie lysosomiales suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Lysosomes.Suspicion Maladie stockage.:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale sospetto:Prid:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) lysosomale stapelingsziekte verdenking:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Suspeita de Doenças de depósito lisossômico:Ident:Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Лизосомальные болезни накопления предполагаемые:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) Lizozomal depo bozukluğu şüpheli:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 所怀疑的溶酶体贮积症:存在与否或特征标识:时间点:全血.斑点:名义型:
Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 存在;存在与否;特征标识;身份;身份标识 所怀疑的（已怀疑的、疑似）溶酶体贮积症（溶酶体贮积病、溶酶体储积疾病、溶酶体储存障碍、溶酶体蓄积病、溶酶体堆积病）;溶酶体贮积症;溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 时刻;随机;随意;瞬间 溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 血;血液

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=62302-5