Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

Preferred Label : Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome;

NCIt synonyms : Najjar Syndrome; DCM-HH; Malouf Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. It is characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism.;

Details

Origin ID

C174217;

UMLS CUI

C0796083;

Currated CISMeF NLP mapping
- Cardiomyopathy, dilated, with hypergonadotropic hypogonadism [OMIM Phenotype]
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [ORDO Disease]
- Malouf syndrome [MeSH concept]
- Najjar syndrome [MeSH concept]
- dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [DO Concept]
- malouf syndrome [MeSH Supplementary Concept]
- najjar syndrome [MeSH Supplementary Concept]
DO Cross reference
- dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) [SNOMED CT concept]
- Najjar syndrome [MeSH concept]
- najjar syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- LMNA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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