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783737007: Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3760094010 Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760095011 Hirschsprung disease, ganglioneuroblastoma syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760096012 A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated. 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
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) est un(e) (attribut) maladie néoplasique true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) est un(e) (attribut) Congenital anomaly of large intestine true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) est un(e) (attribut) Genetic disease true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) localisation d'une constatation (attribut) Large intestine part true Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) localisation d'une constatation (attribut) Large intestine part true Inferred relationship Some 2
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) est un(e) (attribut) neuropathie autonome true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) est un(e) (attribut) Congenital dilatation of intestinal tract true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) morphologie associée (attribut) hypertrophie true Inferred relationship Some 2
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) localisation d'une constatation (attribut) Autonomic nerve structure true Inferred relationship Some 4
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) morphologie associée (attribut) Neuroepitheliomatous neoplasm true Inferred relationship Some 3

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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