Sexual Differentiation Disorder

Preferred Label : Sexual Differentiation Disorder;

NCIt related terms : Disorders of Sex Development; Intersex Conditions; Intersex; DSD; Conditions Affecting Reproductive Development; Disorder of Sexual Differentiation; Differences of Sex Development; CARD;

NCIt definition : A congenital disorder characterized by abnormalities in the development of the sexual characteristics.;

Alternative definition : NICHD: Congenital conditions in which there is variation in the number and/or structure of the sex chromosomes, and/or in which the development of gonadal, reproductive, and/or genital structures is atypical.;

Détails

Origin ID

C103186;

UMLS CUI

C2930619;

Automatic exact mappings (from CISMeF team)
- Cardiology studies [LOINC component]
- Intersex (finding) [SNOMED CT concept]
- Sexual differentiation disorder [PASCAL descriptor]
- intersex conditions [MeSH concept]
- maps as topic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Disorder of sex development [MedDRA Preferred Term]
- Disorder of sexual differentiation (disorder) [SNOMED CT concept]
- Malformative disorders of sex development [ICD-11 Category]
- disorder of sexual development [DO Concept]
- disorder of sexual differentiation, nos [SNOMED Notion]
- disorders of sex development [MeSH Descriptor]
- disorders of sex development [MeSH concept]
- sex differentiation disorder [Disease (Nov.)]
- sex differentiation disorders [MeSH concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of sexual differentiation (disorder) [SNOMED CT concept]
- disorder of sexual differentiation, nos [SNOMED Notion]
- sex differentiation disorder [Disease (Nov.)]
- sex differentiation disorders [MeSH concept]
Validated automatic mappings to NTBT
- Disorder of sex development [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]

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