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1260142000: Congenital vertebral, cardiac, renal anomalies syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5159435017 Congenital vertebral, cardiac, renal anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159436016 Congenital NAD deficiency disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5159437013 Congenital vertebral, cardiac, renal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159438015 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability and sensorineural hearing loss among others. 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
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Defect of vertebral segmentation (disorder) true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Congenital anomaly of spine true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Finding site Bone structure of spine true Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Finding site Heart structure true Inferred relationship Some 3
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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