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1332387008: Cardiac urogenital syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5353872011 Myelin regulatory factor-related cardiac urogenital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5353874012 MYRF-related cardiac urogenital syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5353875013 Cardiac urogenital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5353876014 Cardiac urogenital syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5353873018 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. 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
Cardiac urogenital syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Cardiac urogenital syndrome Is a Congenital heart disease true Inferred relationship Some
Cardiac urogenital syndrome Is a Genitourinary congenital anomalies true Inferred relationship Some
Cardiac urogenital syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Cardiac urogenital syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Cardiac urogenital syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Cardiac urogenital syndrome Occurrence Congenital true Inferred relationship Some 1
Cardiac urogenital syndrome Finding site Structure of genitourinary system (body structure) true Inferred relationship Some 1
Cardiac urogenital syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Cardiac urogenital syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cardiac urogenital syndrome Occurrence Congenital true Inferred relationship Some 2
Cardiac urogenital syndrome Finding site Heart structure true Inferred relationship Some 2
Cardiac urogenital syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Cardiac urogenital syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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