kallmann syndrome

Preferred Label : kallmann syndrome;

MeSH definition : A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.;

MeSH synonym : kallmann's syndrome; syndrome, kallmann; Kallmanns Syndrome; syndrome, kallmann's; anosmic hypogonadism; anosmic hypogonadisms; hypogonadism, anosmic; hypogonadisms, anosmic; dysplasia olfactogenitalis of de morsier; anosmic idiopathic hypogonadotropic hypogonadism; hypogonadotropic Hypogonadism-Anosmia syndrome; hypogonadotropic hypogonadism and anosmia;

CISMeF synonym : Kallmann;

MeSH hyponym : kallmann syndrome 3; kallmann syndrome 2; kallmann syndrome 1; Kallmann Syndrome, Type 1, X-linked; Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion); Kallmann Syndrome, Type 3, Recessive; Autosomal Recessive Form of Kallmann Syndrome; Autosomal Dominant Form of Kallmann Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Kallmann syndrome;

Détails

Origin ID

D017436;

UMLS CUI

C0162809;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Gonadotropin deficiency [ICD-11 Subcategory]
- Hypogonadotropic hypogonadism 2 with or without anosmia [OMIM Phenotype]
- Hypogonadotropic hypogonadism 3 with or without anosmia [OMIM Phenotype]
- 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 with Anosmia [NCIt concept]
- Hypogonadotropic hypogonadism 1 with or without anosmia [OMIM Phenotype]
- Kallman's syndrome [MedDRA LLT]
- Kallmann Syndrome 1 [NCIt concept]
- Kallmann syndrome [PASCAL descriptor]
- Kallmann syndrome [Disease (Nov.)]
- Kallmann syndrome [DO Concept]
- Kallmann syndrome [ORDO Disease]
- Kallmann's syndrome [MedDRA LLT]
- Olfacto genital dysplasia [MedDRA Preferred Term]
- Olfactogenital dysplasia [ICD-11 More detail]
- de Morsier-Kallman's syndrome [MedDRA LLT]
- hypogonadism with anosmia [SNOMED Notion]
- hypogonadotropic hypogonadism 1 with or without anosmia [DO Concept]
DO Cross reference
- Kallmann syndrome [DO Concept]
False automatic mappings
- Hypogonadotropic hypogonadism (disorder) [SNOMED CT concept]
- Hypopituitarism [ICD-10 Sub-category (who)]
Indexing information
- CHD7 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Congenital hypogonadotropic hypogonadism [ORDO Disease]
- Male infertility with impaired virilization due to an hypothalamic or pituitary disorder [ORDO Disease]
ORDO relation(s)
- Kallmann syndrome [ORDO Disease]
Record concept(s)
- kallmann syndrome [MeSH concept]
- kallmann syndrome 1 [MeSH concept]
- kallmann syndrome 2 [MeSH concept]
- kallmann syndrome 3 [MeSH concept]
Related MeSH Supplementary Concept(s)
- brachytelephalangy characteristic facies kallmann [MeSH Supplementary Concept]
- hypogonadotropic hypogonadism and anosmia, autosomal dominant [MeSH Supplementary Concept]
- kallmann syndrome 2 with bimanual synkinesia [MeSH Supplementary Concept]
- kallmann syndrome 2 with cleft lip or palate [MeSH Supplementary Concept]
- kallmann syndrome 2 with selective tooth agenesis [MeSH Supplementary Concept]
- kallmann syndrome 4 [MeSH Supplementary Concept]
- kallmann syndrome 5 [MeSH Supplementary Concept]
- kallmann syndrome 6 [MeSH Supplementary Concept]
- spastic paraplegia with kallmann syndrome [MeSH Supplementary Concept]
See also
- gonadotropin-releasing hormone [MeSH Descriptor]
- receptor, fibroblast growth factor, type 1 [MeSH Descriptor]
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]
- Hypogonadotropic Hypogonadism with Anosmia [NCIt concept]
- Kallman's syndrome [MedDRA LLT]
- Kallmann syndrome [ORDO Disease]
- Kallmann syndrome [DO Concept]
- Kallmann syndrome [PASCAL descriptor]
- Kallmann's syndrome [MedDRA LLT]
- Olfacto genital dysplasia [MedDRA Preferred Term]
- de Morsier-Kallman's syndrome [MedDRA LLT]
- hypogonadism with anosmia [SNOMED Notion]
Validated automatic mappings to BTNT
- Hypogonadotropic hypogonadism 2 with or without anosmia [OMIM Phenotype]

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