Anosmic congenital hypogonadotropic hypogonadism

Preferred Label : Anosmic congenital hypogonadotropic hypogonadism;

ICD-11 definition : Kallmann syndromeis a congenital genetic disorder characterized by the association of hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).;

ICD-11 synonym : Congenital hypogonadotropic hypogonadism with anosmia;

ICD-11 inclusion : dysplasia olfactogenitalis of de Morsier; hypogonadotropic eunuchoidism; anosmia eunuchoidism; gonadotrophin deficiency with anosmia;

Details

Origin ID

1053735191;

UMLS CUI

C0162809;

Currated CISMeF NLP mapping
- Hypogonadism with anosmia (disorder) [SNOMED CT concept]
- Hypogonadotropic Hypogonadism with Anosmia [NCIt concept]
- Kallman's syndrome [MedDRA LLT]
- Kallmann syndrome [ORDO Disease]
- Kallmann syndrome [DO Concept]
- Kallmann syndrome [Disease (Nov.)]
- Kallmann syndrome [PASCAL descriptor]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Hypogonadotropic hypogonadism 1 with or without anosmia [OMIM Phenotype]
- Kallmann Syndrome 1 [NCIt concept]
- hypogonadotropic hypogonadism 1 with or without anosmia [DO Concept]

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