C0023786 - The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).

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Lang Dictionary CODE			LUI	preferred no	SUI	preference Yes / No	Terms, descriptions
							CUI C0023786

Russian	Medical Subject Headings Russian	D008059	L3358794	preferred	S3886282	Y	МУКОПОЛИСАХАРИДОЗ I
Russian	Medical Subject Headings Russian	D008059	L0899719	no	S1103536	Y	MUKOPOLISAKHARIDOZ I
Russian	Medical Subject Headings Russian	D008059	L1520903	no	S1816812	Y	GARGOILIZM
Russian	Medical Subject Headings Russian	D008059	L1522553	no	S1818462	Y	GURLERA SINDROM
Russian	Medical Subject Headings Russian	D008059	L1522554	no	S1818463	Y	GURLERA-SHIAIA SINDROM
Russian	Medical Subject Headings Russian	D008059	L1528655	no	S1824564	Y	LIPOKHONDRODISTROFIIA
Russian	Medical Subject Headings Russian	D008059	L1531278	no	S1827187	Y	MUKOPOLISAKHARIDOZ V
Russian	Medical Subject Headings Russian	D008059	L1536107	no	S1832016	Y	PFAUNDLERA-GURLERA SINDROM
Russian	Medical Subject Headings Russian	D008059	L1542042	no	S1837951	Y	SHIAIA SINDROM
Russian	MDRRUS	10056886	L15736869	no	S19047856	N	Мукополисахаридоз I
Russian	MDRRUS	10056886	L15736869	no	S19047856	Y	Мукополисахаридоз I
Russian	Medical Subject Headings Russian	D008059	L3343794	no	S3871273	Y	ГАРГОИЛИЗМ
Russian	Medical Subject Headings Russian	D008059	L3346740	no	S3874223	Y	ГУРЛЕРА СИНДРОМ
Russian	Medical Subject Headings Russian	D008059	L3346741	no	S3874224	Y	ГУРЛЕРА-ШИАЙА СИНДРОМ
Russian	Medical Subject Headings Russian	D008059	L3355690	no	S3883171	Y	ЛИПОХОНДРОДИСТРОФИЯ
Russian	Medical Subject Headings Russian	D008059	L3358798	no	S3886286	Y	МУКОПОЛИСАХАРИДОЗ V
Russian	Medical Subject Headings Russian	D008059	L3366320	no	S3893804	Y	ПФАУНДЛЕРА-ГУРЛЕРА СИНДРОМ
Russian	Medical Subject Headings Russian	D008059	L3376947	no	S3904439	Y	ШИАЙА СИНДРОМ
	Medical Subject Headings				A0088392	AT187631296	Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
	(CPTSP) CRISP Thesaurus				A0484226	AT51220670	autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.
	Medical Subject Headings Czech				A13048696	AT231378582	Systémové lyzozomální onemocnění z ukládání způsobené deficitem alfa-L-iduronidázy a charakterizované progresivním zhoršováním stavu a vylučováním dermatansulfátu a heparansulfátu močí. Rozlišují se 3 fenotypy s různou mírou postižení: syndrom Hurlerové, syndrom Hurlerové-Scheieův a Scheieův syndrom (dříve mukopolysacharidóza V). Mezi symptomy může patřit nanismus, hepatosplenomegalie, hrubé rysy obličeje, výraz chrliče (gargoylismus), zákal rohovky, srdeční komplikace a mentální retardace.
	(JABL) Congenital Mental Retardation Syndromes				A1704172	AT14332398	Inborn mucopolysaccharide metabolism disorder with alpha-L-iduronidase deficiency in leukocytes and fibroblasts and abnormal mucopolysaccharide incorporation and degradation by fibroblasts. Three types are recognized. All three types have similar laboratory findings, except that the fibroblasts in MPS-I-H are heat-stable, whereas in MPS-I-S they are heat-labile. Otherwise, the distinction is mainly clPinical. Johnie McL was the patient in whom the syndrome was observed, hence the synonym Johnie McL syndrome.mucopolysaccharidosis (MPS) I-H Synonyms: Hurler syndrome gargoylism) The most severe of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental retardation, dysostosis multiplex, corneal clouding, and death before the age of 10 years because of pneumonia and heart failure. Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during the second year of life.mucopolysaccharidosis (MPS) I-S Synonyms: Scheie syndrome late Hurler syndrome forme fruste of Hurler syndrome Ullrich-Scheie syndrome Spat-Hurler syndrome A more moderate form which is marked by corneal opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications. The condition is seldom recognized during infancy or early childhood.mucopolysaccharidosis (MPS) H/I-S Synonyms: Hurler-Scheie syndrome, phenotype, compound, genetic compound, or syndrome An intermediate form between Hurler and Scheie syndromes, including short stature, dysostosis multiplex, hepatosplenomegaly, corneal clouding, umbilical or inguinal hernia, generally normal mental development with psychotic symptoms later in life, and death by age 25 years. The symptoms usually become apparent by the age of two years.
	NCI Thesaurus				A17683533	AT197961705	The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).