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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
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
3413961001000119 Hirschsprung-Krankheit-Ganglioneuroblastom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6296821000241113 ganglioneurome de Hirschsprung fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6296831000241110 syndrome de maladie de Hirschsprung et ganglioneuroblastome fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6296821000241113 ganglioneurome de Hirschsprung fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6296831000241110 syndrome de maladie de Hirschsprung et ganglioneuroblastome fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3413961001000119 Hirschsprung-Krankheit-Ganglioneuroblastom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Congenital anomaly of large intestine (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease, ganglioneuroblastoma syndrome Finding site Large intestine part true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease, ganglioneuroblastoma syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease, ganglioneuroblastoma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease, ganglioneuroblastoma syndrome Finding site Large intestine part true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease, ganglioneuroblastoma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease, ganglioneuroblastoma syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease, ganglioneuroblastoma syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Autonomic neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Congenital dilatation of intestinal tract true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease, ganglioneuroblastoma syndrome Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease, ganglioneuroblastoma syndrome Finding site Autonomic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease, ganglioneuroblastoma syndrome Associated morphology Neuroepitheliomatous neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease, ganglioneuroblastoma syndrome Is a Dilatation of large intestine true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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