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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
5159436016 Congenital NAD deficiency disorder en Synonym Active Initial character case insensitive SNOMED CT core
5159437013 Congenital vertebral, cardiac, renal anomalies syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital vertebral, cardiac, renal anomalies syndrome Is a Congenital heart disease true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Defect of vertebral segmentation true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Hereditary nephropathy true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Congenital anomaly of spine true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome Finding site Bone structure of spine true Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome Occurrence Congenital true Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome Finding site Kidney structure true Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome Occurrence Congenital true Inferred relationship Some 3
Congenital vertebral, cardiac, renal anomalies syndrome Finding site Structure of heart true Inferred relationship Some 3
Congenital vertebral, cardiac, renal anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Congenital vertebral, cardiac, renal anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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