D-Bifunctional Protein Deficiency

Preferred Label : D-Bifunctional Protein Deficiency;

NCIt synonyms : Peroxisomal Multifunctional Enzyme (MFE2) Deficiency; D-Bifunctional Enzyme Deficiency; Peroxisomal Multifunctional Enzyme Deficiency; Multifunctional Enzyme Deficiency; Pseudo-Zellweger Syndrome;

NCIt definition : A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills.;

Details

Origin ID

C119676;

UMLS CUI

C0342870;

Currated CISMeF NLP mapping
- 17 beta hydroxysteroid dehydrogenase IV deficiency [Disease (Nov.)]
- Bifunctional enzyme deficiency [ORDO Disease]
- Bifunctional peroxisomal enzyme deficiency (disorder) [SNOMED CT concept]
- D-bifunctional protein deficiency [OMIM Phenotype]
- D-bifunctional protein deficiency [DO Concept]
- Peroxisomal D-bifunctional enzyme deficiency [ICD-11 More detail]
- Peroxisomal bifunctional enzyme deficiency [MeSH concept]
- Pseudo-Zellweger syndrome [MeSH Supplementary Concept]
- Pseudo-Zellweger syndrome [ORDO Disease]
- Pseudo-Zellweger syndrome [MeSH concept]
- Pseudo-Zellweger syndrome [ICD-11 More detail]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- 17 beta hydroxysteroid dehydrogenase IV deficiency [Disease (Nov.)]
- Bifunctional enzyme deficiency [ORDO Disease]
- Bifunctional peroxisomal enzyme deficiency (disorder) [SNOMED CT concept]
- D-bifunctional protein deficiency [DO Concept]
- D-bifunctional protein deficiency [OMIM Phenotype]
- Peroxisomal D-bifunctional enzyme deficiency [ICD-11 More detail]
- Peroxisomal bifunctional enzyme deficiency [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HSD17B4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients