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1144342008: Congenital hypoplasia of adenohypophysis (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4541668011 Congenital hypoplasia of anterior pituitary en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4541669015 Congenital hypoplasia of adenohypophysis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4541670019 Congenital hypoplasia of adenohypophysis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of anterior pituitary Is a Congenital malformation of anterior pituitary true Inferred relationship Some
Congenital hypoplasia of anterior pituitary Is a Congenital hypoplasia of cerebrum true Inferred relationship Some
Congenital hypoplasia of anterior pituitary Occurrence Congenital true Inferred relationship Some 1
Congenital hypoplasia of anterior pituitary Finding site Adenohypophysis structure true Inferred relationship Some 1
Congenital hypoplasia of anterior pituitary Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital hypoplasia of anterior pituitary Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Is a True Congenital hypoplasia of anterior pituitary Inferred relationship Some

This concept is not in any reference sets

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