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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
12748821000172117 ganglioneurome de Hirschsprung fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
12748831000172119 syndrome de maladie de Hirschsprung et ganglioneuroblastome fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4091911000172112 syndroom van ganglioneuroblastoom en aganglionair megacolon nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4091921000172119 syndroom van ganglioneuroblastoom en aganglionose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4091931000172116 syndroom van ganglioneuroblastoom en megacolon congenitum nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4091941000172111 syndroom van ganglioneuroblastoom en ziekte van Hirschsprung nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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