phenylketonurias

Preferred Label : phenylketonurias;

Obsolete resource : false;

MeSH definition : A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).;

MeSH synonym : phenylketonuria;

CISMeF synonym : type 2, phenylketonuria; type 2s, phenylketonuria; iis, phenylketonuria; is, phenylketonuria; atypical phenylketonurias; atypical PKUs; classical phenylketonurias; deficiencies, DHPR; deficiencies, dihydropteridine reductase; deficiencies, PAH; deficiencies, phenylalanine hydroxylase; deficiencies, QDPR; DHPR deficiencies; dihydropteridine reductase deficiencies; hydroxylase deficiencies, phenylalanine; hydroxylase deficiency, phenylalanine; hyperphenylalaninaemias; hyperphenylalaninemias, Non-Phenylketonuric; oligophrenia phenylpyruvicas; PAH deficiencies; phenylalanine hydroxylase deficiencies; phenylketonuria IIs; phenylketonuria is; phenylketonuria type 2s; phenylketonurias, atypical; phenylketonurias, classical; phenylpyruvica, oligophrenia; phenylpyruvicas, oligophrenia; PKUs, atypical; QDPR deficiencies; reductase deficiencies, dihydropteridine; reductase deficiency, dihydropteridine;

MeSH hyponym : diseases, folling; folling diseases; phenylketonuria I; hyperphenylalaninaemia; phenylketonuria II; DHPR Deficiency; Deficiency, DHPR; Dihydropteridine Reductase Deficiency; Deficiency, Dihydropteridine Reductase; Dihydropteridine Reductase Deficiency Disease; HPABH4C; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency; Phenylketonuria, Atypical; Atypical Phenylketonuria; PKU, Atypical; Atypical PKU; QDPR Deficiency; Deficiency, QDPR; Quinoid Dihydropteridine Reductase Deficiency; Hyperphenylalaninemia, BH4-Deficient, C; Deficiency Disease, Dihydropteridine Reductase; Phenylketonuria Type 2; Deficiency Disease, Phenylalanine Hydroxylase, Severe; Folling Disease; Disease, Folling; Folling's Disease; Disease, Folling's; Phenylketonuria, Classical; Classical Phenylketonuria; PAH Deficiency; Deficiency, PAH; Phenylalanine Hydroxylase Deficiency; Deficiency, Phenylalanine Hydroxylase; Phenylalanine Hydroxylase Deficiency Disease; Phenylalanine Hydroxylase Deficiency Disease, Severe; Deficiency Disease, Phenylalanine Hydroxylase; Oligophrenia Phenylpyruvica;

Related MeSH term : hyperphenylalaninemia, Non-Phenylketonuric; Hyperphenylalaninemia, Non Phenylketonuric; Non-Phenylketonuric Hyperphenylalaninemias; BH4 Deficiency; Deficiency, BH4; Non-Phenylketonuric Hyperphenylalaninemia; Non Phenylketonuric Hyperphenylalaninemia; Tetrahydrobiopterin Deficiency; Deficiency, Tetrahydrobiopterin; Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism; Biopterin Deficiency; Biopterin Deficiencies; Deficiency, Biopterin;

MeSH annotation : GEN: prefer specifics; note X refs: consider also PHENYLALANINE HYDROXYLASE /defic and DIHYDROPTERIDINE REDUCTASE /defic; DF: PKU;

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

Details

Origin ID

D010661;

UMLS CUI

C0031485;

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)
- Hyperphenylalaninaemia [MedDRA Preferred Term]
- Hyperphenylalaninemia [MedDRA LLT]
- Other hyperphenylalaninaemias [ICD-10 Sub-category (who)]
- Phenylpyruvic oligophrenia [MedDRA LLT]
- Reduced phenylalanine hydroxylase level [HPO term]
- Tetrahydrobiopterin deficiency [MedDRA Preferred Term]
- Tetrahydrobiopterin synthesis defect (disorder) [SNOMED CT concept]
- classical phenylketonuria [Artificial nutrition thesaurus concept]
- phenylketonuria [medical devices type]
CISMeF manual mappings
- Dihydropteridine reductase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Classic phenylketonuria [ORDO Disease]
- Classical Phenylketonuria [NCIt concept]
- Classical phenylketonuria [ICD-10 Sub-category]
- Classical phenylketonuria [ICD-10 Sub-category (who)]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- Dihydropteridine reductase deficiency (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia [PASCAL descriptor]
- Hyperphenylalaninemia [HPO term]
- Hyperphenylalaninemia (disorder) [SNOMED CT concept]
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [ORDO Disease]
- Hyperphenylalaninemia, BH4-deficient C [NCIt concept]
- Hyperphenylalaninemia, bh4-deficient, C [OMIM Phenotype]
- Mild phenylketonuria [ORDO Disease]
- PHENYLKETONURIA [WHO-ART Preferred Term]
- PKU [MedDRA LLT]
- Phenylalaninaemia [MedDRA LLT]
- Phenylalaninemia [MedDRA LLT]
- Phenylketonuria [PASCAL descriptor]
- Phenylketonuria [MedDRA Preferred Term]
- Phenylketonuria [ICD-11 Subcategory]
- Phenylketonuria [NCIt concept]
- Phenylketonuria [OMIM Phenotype]
- Phenylketonuria [ACR pathology]
- Phenylketonuria [ORDO Disease]
- Phenylketonuria (PKU) [MedDRA LLT]
- Phenylketonuria (disorder) [SNOMED CT concept]
- Phenylketonuria [PKU] [ICD-9 code]
- classical phenylketonuria [SNOMED Notion]
- dihydropteridine reductase deficiency [SNOMED Notion]
- hyperphenylalaninemia, nos [SNOMED Notion]
- phenylketonuria [Disease (Nov.)]
- phenylketonuria [DO Concept]
- phenylketonuria [MedlinePlus Topic]
DO Cross reference
- phenylketonuria [DO Concept]
HPO term
- Hyperphenylalaninemia [HPO term]
- Reduced phenylalanine hydroxylase level [HPO term]
Manual NTBT mappings (CISMeF)
- Disorder of amino acid and other organic acid metabolism [ORDO Disease]
- Disorder of neurotransmitter metabolism and transport [ORDO Disease]
- Disorder of phenylalanin or tyrosine metabolism [ORDO Disease]
- Mild hyperphenylalaninemia [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
MeSH Descriptor(s) used for indexing
- dihydropteridine reductase [MeSH Descriptor]
MedlinePlus topic(s)
- phenylketonuria [MedlinePlus Topic]
ORDO relation(s)
- Phenylketonuria [ORDO Disease]
Record concept(s)
- hyperphenylalaninaemia [MeSH concept]
- hyperphenylalaninemia, Non-Phenylketonuric [MeSH concept]
- phenylketonuria I [MeSH concept]
- phenylketonuria II [MeSH concept]
- phenylketonurias [MeSH concept]
Related MeSH Supplementary Concept(s)
- 6-pyruvoyl-tetrahydropterin synthase deficiency [MeSH Supplementary Concept]
- hyperphenylalaninemia with primapterinuria [MeSH Supplementary Concept]
- hyperphenylalaninemia, BH4-Deficient, B [MeSH Supplementary Concept]
- hyperphenylalaninemia, BH4-Deficient, due to partial PTS deficiency [MeSH Supplementary Concept]
- hyperphenylalaninemia, Non-Pku mild [MeSH Supplementary Concept]
See also
- dihydropteridine reductase [MeSH Descriptor]
- phenylalanine hydroxylase [MeSH Descriptor]
- urine [MeSH Descriptor]
See also (suggested by CISMeF)
- aspartame [MeSH Descriptor]
- phenylalanine [MeSH Descriptor]
See also inter- (CISMeF)
- Dihydropteridine reductase deficiency [ICD-11 More detail]
- Mild hyperphenylalaninaemia [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PHENYLKETONURIA [WHO-ART Preferred Term]
- PKU [MedDRA LLT]
- Phenylalaninaemia [MedDRA LLT]
- Phenylalaninemia [MedDRA LLT]
- Phenylketonuria [ORDO Disease]
- Phenylketonuria [ACR pathology]
- Phenylketonuria [MedDRA Preferred Term]
- Phenylketonuria [NCIt concept]
- Phenylketonuria (PKU) [MedDRA LLT]
- Phenylketonuria (disorder) [SNOMED CT concept]
- Phenylketonuria [PKU] [ICD-9 code]
- phenylketonuria [MedlinePlus Topic]
Validated automatic mappings to BTNT
- Classical Phenylketonuria [NCIt concept]
- Classical phenylketonuria [ICD-11 Sub-sub category]
- Nonclassical phenylketonuria [ICD-11 Sub-sub category]
- hyperphenylalaninemia [Disease (Nov.)]
- quinoid dihydropteridine reductase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients