Mullerian Inhibiting Factor Deficiency

Preferred Label : Mullerian Inhibiting Factor Deficiency;

NCIt synonyms : Mullerian Inhibiting Substance Deficiency; Müllerian Inhibiting Substance Deficiency; Müllerian Inhibiting Factor Deficiency;

NCIt related terms : MIS Deficiency;

NCIt definition : A deficiency of the Mullerian inhibiting substance, which is secreted by the Sertoli cells during embryogenesis. It can result in unilateral or bilateral cryptorchidism, testicular regression syndrome and sterility.;

Details

Origin ID

C101215;

UMLS CUI

C0271629;

Currated CISMeF NLP mapping
- Mullerian inhibiting factor deficiency (disorder) [SNOMED CT concept]
- mullerian inhibiting factor deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mullerian inhibiting factor deficiency (disorder) [SNOMED CT concept]
- mullerian inhibiting factor deficiency [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- AMH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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