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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
3905701000052112 syndrom med hydrocefalus, endokardiell fibroelastos och katarakt sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Endocardial fibroelastosis false Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Communicating hydrocephalus true Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Cardiac internal structure false Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology kongenital dilatation false Inferred relationship Some 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 6
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology medfödd katarakt false Inferred relationship Some 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Lens clear false Inferred relationship Some 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Fibroelastosis (morphologic abnormality) false Inferred relationship Some 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Endocardium structure false Inferred relationship Some 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital cardiovascular disorder (disorder) false Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Lens clear true Inferred relationship Some 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital heart disease 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) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence Congenital 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) Associated morphology Fibroelastosis (morphologic abnormality) true Inferred relationship Some 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Finding site Endocardium structure true Inferred relationship Some 2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 1
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology katarakt false Inferred relationship Some 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 3
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a Congenital endocardial fibroelastosis (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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