Hypogonadotropic Hypogonadism with Anosmia

Preferred Label : Hypogonadotropic Hypogonadism with Anosmia;

NCIt synonyms : Kallmann Syndrome;

NCIt definition : An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia.;

Alternative definition : NICHD: An X-linked or autosomal dominant syndrome due to mutation(s) in a number of genes, including FGFR1 (encoding fibroblast growth factor receptor 1), KAL1 (encoding anosmin-1), PROKR2 (encoding prokineticin receptor-2), CDH7 (encoding chromodomain helicase DNA binding protein 7), and FGF8 (encoding fibroblast growth factor 8). This condition is characterized by an impaired sense of smell and a deficiency of gonadotropin-releasing hormone, resulting in hypogonadotropic hypogonadism. Additional features may include cleft lip or palate, unilateral kidney dysgenesis, and synkinesia.;

Details

Origin ID

C75479;

UMLS CUI

C0162809;

Automatic exact mappings (from CISMeF team)
- Gonadotropin deficiency [ICD-11 Subcategory]
- Hypopituitarism [ICD-10 Sub-category (who)]
- Hypopituitarism [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Anosmic congenital hypogonadotropic hypogonadism [ICD-11 More detail]
- Hypogonadism with anosmia (disorder) [SNOMED CT concept]
- Hypogonadotropic hypogonadism 1 with or without anosmia [OMIM Phenotype]
- Hypogonadotropic hypogonadism with or without anosmia [OMIM phenotypic series]
- Kallman's syndrome [MedDRA LLT]
- Kallmann syndrome [PASCAL descriptor]
- Kallmann syndrome [DO Concept]
- Kallmann syndrome [Disease (Nov.)]
- Kallmann syndrome [ORDO Disease]
- Kallmann's syndrome [MedDRA LLT]
- de Morsier-Kallman's syndrome [MedDRA LLT]
- hypogonadism with anosmia [SNOMED Notion]
- kallmann syndrome [MeSH Descriptor]
- kallmann syndrome [MeSH concept]
DO Cross reference
- Kallmann syndrome [DO Concept]
Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anosmic congenital hypogonadotropic hypogonadism [ICD-11 More detail]
- Hypogonadism with anosmia (disorder) [SNOMED CT concept]
- Kallman's syndrome [MedDRA LLT]
- Kallmann syndrome [ORDO Disease]
- Kallmann syndrome [PASCAL descriptor]
- Kallmann syndrome [DO Concept]
- Kallmann's syndrome [MedDRA LLT]
- Olfacto genital dysplasia [MedDRA Preferred Term]
- de Morsier-Kallman's syndrome [MedDRA LLT]
- hypogonadism with anosmia [SNOMED Notion]
- kallmann syndrome [MeSH concept]
- kallmann syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine System [NCIt concept]
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]

Keyword's position in hierarchy(ies) :

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