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774150004: Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3728147016 Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome en Synonym Active Case insensitive SNOMED CT core
3728148014 Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3728149018 A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence Congenital true Inferred relationship Some 1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Finding site Spinal cord structure true Inferred relationship Some 4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Finding site Lumbosacral region of spine structure false Inferred relationship Some 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence Congenital true Inferred relationship Some 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a Sacral agenesis true Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Finding site Neural tube structure true Inferred relationship Some 1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence Congenital true Inferred relationship Some 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a Neural tube defect true Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence Congenital true Inferred relationship Some 4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology Agenesis true Inferred relationship Some 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Finding site Entire sacrum false Inferred relationship Some 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Finding site Structure of sacral vertebral column region true Inferred relationship Some 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a Congenital anomaly of spinal cord true Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Finding site Entire sacral vertebral column region true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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