Phenylketonuria

Preferred Label : Phenylketonuria;

NCIt related terms : PKU;

NCIt definition : An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.;

Alternative definition : NCI-GLOSS: An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine.;

Codes from synonyms : CDR0000458041; CDR0000446806;

Details

Origin ID

C81315;

UMLS CUI

C0031485;

Automatic exact mappings (from CISMeF team)
- Nonclassical phenylketonuria [ICD-11 Sub-sub category]
- Other hyperphenylalaninaemias [ICD-10 Sub-category (who)]
- classical phenylketonuria [Artificial nutrition thesaurus concept]
- contraceptives, postcoital [MeSH Descriptor]
- phenylketonuria [EMDN type]
- phenylketonuria [medical devices type]
Currated CISMeF NLP mapping
- Classical phenylketonuria [ICD-11 Sub-sub category]
- Classical phenylketonuria (disorder) [SNOMED CT concept]
- PHENYLKETONURIA [WHO-ART Preferred Term]
- PKU [MedDRA LLT]
- Phenylalaninaemia [MedDRA LLT]
- Phenylalaninemia [MedDRA LLT]
- Phenylketonuria [ACR pathology]
- Phenylketonuria [PASCAL descriptor]
- Phenylketonuria [ICD-11 Subcategory]
- Phenylketonuria [MedDRA Preferred Term]
- Phenylketonuria [OMIM Phenotype]
- Phenylketonuria [ORDO Disease]
- Phenylketonuria (PKU) [MedDRA LLT]
- Phenylketonuria (disorder) [SNOMED CT concept]
- Phenylketonuria [PKU] [ICD-9 code]
- classical phenylketonuria [SNOMED Notion]
- phenylketonuria [Disease (Nov.)]
- phenylketonuria [DO Concept]
- phenylketonuria [MedlinePlus Topic]
- phenylketonurias [MeSH Descriptor]
- phenylketonurias [MeSH concept]
DO Cross reference
- phenylketonuria [DO Concept]
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 (PKU) [MedDRA LLT]
- Phenylketonuria (disorder) [SNOMED CT concept]
- Phenylketonuria [PKU] [ICD-9 code]
- phenylketonuria [MedlinePlus Topic]
- phenylketonurias [MeSH concept]
- phenylketonurias [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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