FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

726704006: syndroom van cataract, congenitale hartafwijking en neuralebuisdefect (aandoening)


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

Descriptions:

Id Description Lang Type Status Case? Module
3451906015 Cataract, congenital heart disease, neural tube defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451907012 Cataract, congenital heart disease, neural tube defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6997091000146117 syndroom van cataract, congenitale hartafwijking en neuralebuisdefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6997101000146112 syndroom van cataract, congenitale hartziekte en neuralebuisdefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6997111000146114 syndroom van cataract, congenitale hartafwijking en neuralebuisdefect (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7853341000146115 syndroom van cataract, congenitale hartaandoening en neuralebuisdefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3451908019 A multiple congenital anomaly syndrome with characteristics of sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures and joint limitation are also reported. 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
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Neural tube defect true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology congenitaal cataract false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Lens clear false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 9
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Neural tube structure false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Heart structure false Inferred relationship Some 9
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Lens clear true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Heart structure true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Finding site Neural tube structure true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology cataract false Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

Back to Start