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721072003: Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)


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
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
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 Switzerland NRC maintained Module


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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Congenital anomaly of skull true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Congenital hypoplasia of part of brain false Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Congenital malformation of anterior pituitary true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Anterior pituitary hormone deficiency (disorder) true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Finding site Adenohypophysis structure true Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Finding site Entire pituitary fossa false Inferred relationship Some 3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Congenital hypoplasia of cerebrum true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Finding site 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) Occurrence Congenital true Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a Hypoplasia of hypothalamus false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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US English

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