Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type

Preferred Label : Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type;

NCIt synonyms : Mental Retardation, Epilepsy, and Endocrine Disorders; Borjeson-Forssman-Lehmann Syndrome; MRXSBFL; BFLS;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the PHF6 gene, encoding PHD finger protein 6. It is characterized by severe intellectual disability, epilepsy, hypogonadism, hypometabolism, and obesity.;

Details

Origin ID

C157122;

UMLS CUI

C0265339;

Automatic exact mappings (from CISMeF team)
- Bird fancier lung [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- Borjeson Forssman Lehmann syndrome [Disease (Nov.)]
- Borjeson-Forssman-Lehmann syndrome [DO Concept]
- Borjeson-Forssman-Lehmann syndrome [MeSH Supplementary Concept]
- Borjeson-Forssman-Lehmann syndrome [ORDO Disease]
- Borjeson-Forssman-Lehmann syndrome [MeSH concept]
- Borjeson-Forssman-Lehmann syndrome (disorder) [SNOMED CT concept]
- Borjeson-forssman-lehmann syndrome [OMIM Phenotype]
- Börjeson-Forssman-Lehmann syndrome [ICD-11 More detail]
- borjeson-forssman-lehmann syndrome [SNOMED Notion]
DO Cross reference
- Borjeson-Forssman-Lehmann syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Borjeson Forssman Lehmann syndrome [Disease (Nov.)]
- Borjeson-Forssman-Lehmann syndrome [DO Concept]
- Borjeson-Forssman-Lehmann syndrome [MeSH concept]
- Borjeson-Forssman-Lehmann syndrome [MeSH Supplementary Concept]
- Borjeson-Forssman-Lehmann syndrome [ORDO Disease]
- Borjeson-Forssman-Lehmann syndrome (disorder) [SNOMED CT concept]
- Borjeson-forssman-lehmann syndrome [OMIM Phenotype]
- Börjeson-Forssman-Lehmann syndrome [ICD-11 More detail]
- borjeson-forssman-lehmann syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PHF6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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