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783737007: syndroom van ganglioneuroblastoom en ziekte van Hirschsprung (aandoening)


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
10000601000146117 syndroom van ganglioneuroblastoom en ziekte van Hirschsprung (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10000611000146115 syndroom van ganglioneuroblastoom en ziekte van Hirschsprung nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10060331000146118 syndroom van ganglioneuroblastoom en aganglionose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10527301000146117 syndroom van ganglioneuroblastoom en aganglionair megacolon nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10527311000146115 syndroom van ganglioneuroblastoom en megacolon congenitum nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Is a Neoplastic disease (disorder) 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 (morphologic abnormality) 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
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) Is a Dilatation of large intestine true Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) Is a Congenital neurological disorder (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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