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722060007: oculogastro-intestinale spierdystrofie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330422010 Oculogastrointestinal muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330423017 Oculogastrointestinal muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330424011 Visceral myopathy with familial external ophthalmoplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6968541000146118 syndroom van viscerale myopathie en familiaire externe oftalmoplegie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7537621000146111 oculogastro-intestinale spierdystrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7537631000146113 oculogastro-intestinale spierdystrofie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3330425012 An extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330426013 An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction. 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
Oculogastrointestinal muscular dystrophy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Is a Congenital anomaly of visual system true Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Is a Motility disorder of intestine false Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Is a Pseudo-obstruction of intestine true Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Associated morphology Pseudo-obstruction true Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy (disorder) Finding site Intestinal structure true Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Oculogastrointestinal muscular dystrophy (disorder) Occurrence Congenital false Inferred relationship Some 3
Oculogastrointestinal muscular dystrophy (disorder) Finding site Structure of visual system (body structure) false Inferred relationship Some 3
Oculogastrointestinal muscular dystrophy (disorder) Is a Congenital anomaly of intestinal tract true Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Finding site Structure of visual system (body structure) true Inferred relationship Some 1
Oculogastrointestinal muscular dystrophy (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculogastrointestinal muscular dystrophy (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Oculogastrointestinal muscular dystrophy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculogastrointestinal muscular dystrophy (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Is a Congenital disorder of intestine (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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