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721015008: Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)


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
3323050014 Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323051013 Hydrocephalus with endocardial fibroelastosis and cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323052018 HEC syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3780953013 HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323054017 Syndrome that is characterised by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323055016 Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed. 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
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale false Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) morphologie associée (attribut) Fibroelastosis true Inferred relationship Some 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) localisation d'une constatation (attribut) endocarde (structure corporelle) true Inferred relationship Some 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'encéphale false Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) est un(e) (attribut) Congenital endocardial fibroelastosis (disorder) true Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) est un(e) (attribut) hydrocéphalie congénitale true Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) est un(e) (attribut) Endocardial fibroelastosis false Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) est un(e) (attribut) Congenital cataract true Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) est un(e) (attribut) Communicating hydrocephalus true Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) localisation d'une constatation (attribut) Cardiac internal structure false Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) morphologie associée (attribut) Congenital cataract false Inferred relationship Some 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) morphologie associée (attribut) Fibroelastosis false Inferred relationship Some 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) localisation d'une constatation (attribut) endocarde (structure corporelle) false Inferred relationship Some 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) est un(e) (attribut) Congenital cardiovascular 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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