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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
5402569011 A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402570012 A rare syndromic cardiac disease characterised by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosaemia is reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323050014 Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3323056015 HEC (hydrocephalus, endocardial fibroelastosis, cataract ) 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
5402569011 A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402570012 A rare syndromic cardiac disease characterised by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosaemia is reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
650961000274118 Syndrom mit Hydrozephalus, Endokard-Fibroelastose und Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450911001000115 HEC-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5481541000241112 syndrome d'hydrocéphalie fibroélastoses cataracte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5481541000241112 syndrome d'hydrocéphalie fibroélastoses cataracte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
650961000274118 Syndrom mit Hydrozephalus, Endokard-Fibroelastose und Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450911001000115 HEC-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
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Endocardial fibroelastosis false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Communicating hydrocephalus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Cardiac internal structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Structure of brain cerebrospinal fluid pathway (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Fibroelastosis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Endocardium structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital cardiovascular disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital heart disease (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Fibroelastosis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Structure of brain cerebrospinal fluid pathway (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Endocardium structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital endocardial fibroelastosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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