Pituitary Stalk Interruption Syndrome

Preferred Label : Pituitary Stalk Interruption Syndrome;

NCIt related terms : PSIS; Hypoplastic Anterior Pituitary, Missing Stalk, and Ectopic Posterior Pituitary;

Alternative definition : NICHD: A syndrome characterized by hypoplastic or aplastic anterior pituitary gland, a very thin or interrupted pituitary stalk, and ectopic or absent posterior pituitary gland, which may be associated with mutation(s) in the HESX1 or LHX4 genes.;

Details

Origin ID

C121150;

UMLS CUI

C4053775;

Automatic exact mappings (from CISMeF team)
- Growth hormone deficiency with or without pituitary stalk interruption syndrome [ICD-11 More detail]
- Pituitary stalk interruption syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ectopic posterior pituitary [HPO term]
- Pituitary stalk interruption syndrome [ICD-11 More detail]
- Pituitary stalk interruption syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pituitary stalk interruption syndrome [MedDRA Preferred Term]
- Pituitary stalk interruption syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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