C0028817 - Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. [HPO:probinson, PMID:24447956, PMID:26929770]

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Lang Dictionary CODE			LUI	preferred no	SUI	preference Yes / No	Terms, descriptions
							CUI C0028817

Russian	Medical Subject Headings Russian	D009794	L3362046	preferred	S3889534	Y	ОХРОНОЗ
Russian	Medical Subject Headings Russian	D009794	L0900722	no	S1104539	Y	OKHRONOZ
Russian	MDRRUS	10051253	L15763161	no	S19080434	N	Системное поражение соединительной ткани при охронозе
Russian	MDRRUS	10051253	L15763161	no	S19080434	Y	Системное поражение соединительной ткани при охронозе
	Medical Subject Headings				A0094133	AT64677163	The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).
	Medical Subject Headings Czech				A13041824	AT221378793	Hnědé zbarvení tkání při alkaptonurii, vzácněji při zevním přívodu fenolu. Nejvíce postiženy jsou tkáně s pomalým metabolismem (bradytrofní), zejm. skléra a chrupavky. Zevně je nápadné tmavé zbarvení uší a nosu, postižení kloubních chrupavek urychluje rozvoj artrózy. Pigment je polymerem homogentisové kyseliny. (cit. Velký lékařský slovník online, 2016 http://lekarske.slovniky.cz)
	NCI Thesaurus				A17686426	AT198036388	A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.
	HPO				A27328587	AT235360359	Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. [HPO:probinson, PMID:24447956, PMID:26929770]