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721072003: syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323360013 Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323361012 Short stature, pituitary and cerebellar defect and small sella turcica syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756881000241110 syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
894321000172113 syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3323362017 This syndrome has characteristics of 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 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) localisation d'une constatation (attribut) Entire pituitary fossa true Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Hypoplasia of hypothalamus true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) anomalie congénitale du crâne (trouble) true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of part of brain false Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Congenital malformation of anterior pituitary true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Anterior pituitary hormone deficiency (disorder) true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) localisation d'une constatation (attribut) Adenohypophysis structure true Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) localisation d'une constatation (attribut) Entire pituitary fossa false Inferred relationship Some 3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of cerebrum true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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