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783737007: Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3760095011 Hirschsprung disease, ganglioneuroblastoma syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Neoplastic disease true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Congenital anomaly of large intestine true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Genetic disease true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome Finding site Large intestine part true Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hirschsprung disease, ganglioneuroblastoma syndrome Occurrence Congenital true Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome Finding site Large intestine part true Inferred relationship Some 2
Hirschsprung disease, ganglioneuroblastoma syndrome Occurrence Congenital true Inferred relationship Some 2
Hirschsprung disease, ganglioneuroblastoma syndrome Associated morphology Dilatation true Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Autonomic neuropathy true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Congenital dilatation of intestinal tract true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome Associated morphology Hypertrophy true Inferred relationship Some 2
Hirschsprung disease, ganglioneuroblastoma syndrome Finding site Autonomic nerve structure true Inferred relationship Some 4
Hirschsprung disease, ganglioneuroblastoma syndrome Associated morphology Neuroepitheliomatous neoplasm true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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