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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
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
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
3424123013 A very rare syndrome with characteristics of intellectual deficit, horseshoe kidney, and congenital heart defects. Four cases have been reported in the literature in two unrelated families. Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other. The condition is probably hereditary and transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
3425311001000110 Fazio-kardio-renales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
Faciocardiorenal syndrome (disorder) Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Is a Horseshoe kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Faciocardiorenal syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Faciocardiorenal syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Faciocardiorenal syndrome (disorder) Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Faciocardiorenal syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Faciocardiorenal syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Faciocardiorenal syndrome (disorder) Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Faciocardiorenal syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
Faciocardiorenal syndrome (disorder) Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Faciocardiorenal syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Faciocardiorenal syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Faciocardiorenal syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Faciocardiorenal syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Faciocardiorenal syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Faciocardiorenal syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Faciocardiorenal syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Faciocardiorenal syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Faciocardiorenal syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Faciocardiorenal syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Faciocardiorenal syndrome (disorder) Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Faciocardiorenal syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Faciocardiorenal syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Faciocardiorenal syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
Faciocardiorenal syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Faciocardiorenal syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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