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726704006: Cataract, congenital heart disease, neural tube defect syndrome (disorder)

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
5403581016 Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by 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
5403582011 Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterised by 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
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
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
5403581016 Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by 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
5403582011 Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterised by 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
3382521001000115 Katarakt-kongenitale Kardiopathie-Neuralrohrdefekt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
892031000172117 syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
892031000172117 syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382521001000115 Katarakt-kongenitale Kardiopathie-Neuralrohrdefekt-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
Cataract, congenital heart disease, neural tube defect syndrome Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Is a Neural tube defect true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cataract, congenital heart disease, neural tube defect syndrome Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cataract, congenital heart disease, neural tube defect syndrome Finding site Neural tube structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cataract, congenital heart disease, neural tube defect syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cataract, congenital heart disease, neural tube defect syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cataract, congenital heart disease, neural tube defect syndrome Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cataract, congenital heart disease, neural tube defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract, congenital heart disease, neural tube defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cataract, congenital heart disease, neural tube defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract, congenital heart disease, neural tube defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract, congenital heart disease, neural tube defect syndrome Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cataract, congenital heart disease, neural tube defect syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract, congenital heart disease, neural tube defect syndrome Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cataract, congenital heart disease, neural tube defect syndrome Finding site Neural tube structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cataract, congenital heart disease, neural tube defect syndrome Is a Developmental hereditary 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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