tyrosinemias - CISMeF

Preferred Label : tyrosinemias;

MeSH definition : A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3);

MeSH synonym : tyrosinemia; tyrosinemia, hereditary; tyrosinemias, hereditary; hereditary tyrosinemia; hereditary tyrosinemias; hypertyrosinemia;

CISMeF synonym : 2 tyrosinemia, type;

MeSH hyponym : tyrosinemia, type III; tyrosinemia, type II; tyrosinemia, type I; Type III Tyrosinemia; Type III Tyrosinemias; Tyrosinemias, Type III; Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase; Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase; 4-Hydroxyphenylpyruvate Dioxygenase Deficiency; Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase; Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase; Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate; Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate; 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease; 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease; 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency; 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease; Hereditary Tyrosinemia, Type III; Type I Tyrosinemia; Type I Tyrosinemias; Tyrosinemias, Type I; Fumarylacetoacetase Deficiency Disease; Fumarylacetoacetase Deficiency; Deficiencies, Fumarylacetoacetase; Deficiency, Fumarylacetoacetase; Fumarylacetoacetase Deficiencies; Hypertyrosinemia, Type I; Hypertyrosinemias, Type I; Type I Hypertyrosinemia; Type I Hypertyrosinemias; Tyrosinemia Type 1; Tyrosinemia Type 1s; Hepatorenal Tyrosinemia; Hepatorenal Tyrosinemias; Tyrosinemia, Hepatorenal; Tyrosinemias, Hepatorenal; Hereditary Tyrosinemia, Type I; Deficiency Disease, Fumarylacetoacetase; Deficiency Diseases, Fumarylacetoacetase; Disease, Fumarylacetoacetase Deficiency; Diseases, Fumarylacetoacetase Deficiency; Fumarylacetoacetase Deficiency Diseases; Type II Tyrosinemia; Type II Tyrosinemias; Tyrosinemias, Type II; Deficiency Disease, Tyrosine Transaminase; Hereditary Tyrosinemia, Type II; Richner-Hanhart Syndrome; Richner Hanhart Syndrome; Richner-Hanhart Syndromes; Syndrome, Richner-Hanhart; Syndromes, Richner-Hanhart; Tat Deficiency; Deficiencies, Tat; Deficiency, Tat; Tat Deficiencies; Tyrosinemia, Type 2; 2 Tyrosinemias, Type; Type 2 Tyrosinemia; Type 2 Tyrosinemias; Tyrosinemias, Type 2; Tyrosine Transaminase Deficiency; Keratosis Palmoplantaris with Corneal Dystrophy; Oregon Type Tyrosinemia; Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type; Tyrosine Aminotransferase Deficiency; Tyrosine Transaminase Deficiency Disease; Tyrosinosis, Oculocutaneous Type; Oculocutaneous Type Tyrosinoses; Oculocutaneous Type Tyrosinosis; Type Tyrosinoses, Oculocutaneous; Type Tyrosinosis, Oculocutaneous; Tyrosinoses, Oculocutaneous Type;

MeSH annotation : note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic;

Wikipedia link : https://en.wikipedia.org/wiki/Tyrosinemia;

Details

Origin ID

D020176;

UMLS CUI

C0268486;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) [SNOMED CT concept]
- 4-hydroxyphenylpyruvate dioxygenase deficiency [SNOMED Notion]
- Deficiency of fumarylacetoacetase (disorder) [SNOMED CT concept]
- Deficiency of tyrosine aminotransferase (disorder) [SNOMED CT concept]
- Disorders of tyrosine metabolism [ICD-10 Sub-category (who)]
- Fumarylacetoacetase deficiency, acute type (disorder) [SNOMED CT concept]
- Hawkinsinuria [ORDO Disease]
- Hypertyrosinemia [PASCAL descriptor]
- Hypertyrosinemia [HPO term]
- Hypertyrosinemia (disorder) [SNOMED CT concept]
- Hypertyrosinemia, Richner-Hanhart type (disorder) [SNOMED CT concept]
- Tyrosinaemia type 1 [ICD-11 Sub-sub category]
- Tyrosinaemia type 2 [ICD-11 Sub-sub category]
- Tyrosinaemia type I [MedDRA LLT]
- Tyrosinaemia type II [MedDRA LLT]
- Tyrosinaemia type III [MedDRA LLT]
- Tyrosinemia type 1 [ORDO Disease]
- Tyrosinemia type 2 [ORDO Disease]
- Tyrosinemia type 3 [ORDO Disease]
- Tyrosinemia type I [MedDRA LLT]
- Tyrosinemia type I (disorder) [SNOMED CT concept]
- Tyrosinemia type II [MedDRA LLT]
- Tyrosinemia type III [MedDRA LLT]
- Tyrosinemia type III (disorder) [SNOMED CT concept]
- Tyrosinemia, type I [OMIM Phenotype]
- Tyrosinemia, type II [OMIM Phenotype]
- Tyrosinemia, type III [OMIM Phenotype]
- Tyrosinosis [OMIM Phenotype]
- Tyrosinosis (disorder) [SNOMED CT concept]
- fumarylacetoacetase deficiency, acute type [SNOMED Notion]
- hypertyrosinemia, nos [SNOMED Notion]
- hypertyrosinemia, richner-hanhart type [SNOMED Notion]
- tyrosinemia type III [DO Concept]
- tyrosinosis, nos [SNOMED Notion]
- tyrosinosis, nos [TUV Concept]
Currated CISMeF NLP mapping
- Hereditary hypertyrosinemia (disorder) [SNOMED CT concept]
- Tyrosinaemia [MedDRA Preferred Term]
- Tyrosinemia [NCIt concept]
- Tyrosinemia [MedDRA LLT]
- Tyrosinemia [PASCAL descriptor]
- Tyrosinemia [OMIM phenotypic series]
- Tyrosinemia (disorder) [SNOMED CT concept]
- Tyrosinemias [LOINC component]
- tyrosinemia [DO Concept]
- tyrosinemia [Disease (Nov.)]
DO Cross reference
- tyrosinemia [DO Concept]
Has phenotype(s) (HPO)
- Pancreatic islet-cell hypertrophy [HPO term]
Manual BTNT mappings - CISMeF
- Deficiency of fumarylacetoacetase (disorder) [SNOMED CT concept]
Manual NTBT mappings (CISMeF)
- Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature [ORDO Disease]
- Autosomal recessive disease with focal palmoplantar keratoderma as a major feature [ORDO Disease]
- Disorder of phenylalanin or tyrosine metabolism [ORDO Disease]
- Hereditary palmoplantar keratoderma [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
- Syndromic ichthyosis associated with ocular features [ORDO Disease]
Record concept(s)
- tyrosinemia, type I [MeSH concept]
- tyrosinemia, type II [MeSH concept]
- tyrosinemia, type III [MeSH concept]
- tyrosinemias [MeSH concept]
Related MeSH Supplementary Concept(s)
- hawkinsinuria [MeSH Supplementary Concept]
See also
- tyrosine transaminase [MeSH Descriptor]
See also (suggested by CISMeF)
- tyrosine [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary hypertyrosinemia (disorder) [SNOMED CT concept]
- Tyrosinaemia [MedDRA Preferred Term]
- Tyrosinemia [MedDRA LLT]
- Tyrosinemia [NCIt concept]
- Tyrosinemia [PASCAL descriptor]
- Tyrosinemia (disorder) [SNOMED CT concept]
- Tyrosinemias [LOINC component]
- hereditary hypertyrosinemia, nos [SNOMED Notion]
- tyrosinemia [DO Concept]
- tyrosinemia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Tyrosinaemia type 3 [ICD-11 More detail]
- Tyrosinemia Type I [NCIt concept]
- Tyrosinemia Type II [NCIt concept]
- Tyrosinemia type I (disorder) [SNOMED CT concept]
- tyrosinemia type I [DO Concept]
- tyrosinemia type I [Disease (Nov.)]
- tyrosinemia type II [DO Concept]
- tyrosinemia type II [Disease (Nov.)]
- tyrosinemia type III [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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