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723333000: Faciocardiorenal syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5403005016 A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403006015 A very rare syndrome characterised by intellectual deficit, horseshoe kidney, and congenital heart defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424120011 Faciocardiorenal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424121010 Faciocardiorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424122015 Eastman Bixler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
912401000172112 syndrome d'Eastman-Bixler fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988711000172115 syndrome facio-cardio-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425311001000110 Fazio-kardio-renales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Congenital heart disease true Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Horseshoe kidney true Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a retard mental false Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Cardiovascular system hereditary disorder true Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Hereditary nephropathy (disorder) true Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Occurrence Congenital true Inferred relationship Some 3
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology anomalie du développement false Inferred relationship Some 4
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Occurrence Congenital false Inferred relationship Some 4
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Finding site Heart structure false Inferred relationship Some 4
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Occurrence Congenital false Inferred relationship Some 5
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology anomalie du développement false Inferred relationship Some 3
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Finding site Heart structure true Inferred relationship Some 3
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology Congenital abnormal fusion false Inferred relationship Some 5
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Finding site Kidney structure false Inferred relationship Some 5
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Finding site Face structure false Inferred relationship Some 3
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Intellectual disability false Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Occurrence Congenital true Inferred relationship Some 1
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Occurrence Congenital true Inferred relationship Some 2
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Finding site Face structure true Inferred relationship Some 2
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Finding site Kidney structure true Inferred relationship Some 1
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Developmental hereditary disorder true Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Interprets Intellectual ability true Inferred relationship Some 4
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Has interpretation Impaired true Inferred relationship Some 4
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Has interpretation Impaired true Inferred relationship Some 5
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology Fusion that has occurred in a structure that is not normally fused. true Inferred relationship Some 1
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a Genetic intellectual disability true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

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