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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3451907012 Cataract, congenital heart disease, neural tube defect syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome Finding site Structure of lens of eye true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome Finding site Face structure true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome Finding site Structure of heart true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome Finding site Neural tube structure true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Cataract false Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a Congenital heart disease true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a Congenital cataract true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a Neural tube defect true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Congenital cataract false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome Finding site Structure of lens of eye false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Developmental abnormality false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology Developmental abnormality false Inferred relationship Some 9
Cataract, congenital heart disease, neural tube defect syndrome Occurrence Congenital false Inferred relationship Some 9
Cataract, congenital heart disease, neural tube defect syndrome Finding site Neural tube structure false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome Finding site Structure of nervous system false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome Finding site Face structure false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome Finding site Structure of heart false Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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