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723333000: syndrome facio-cardio-rénal (trouble)


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
759111000241118 syndrome facio-cardio-rénal (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
912401000172112 syndrome d'Eastman-Bixler fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
988711000172115 syndrome facio-cardio-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Faciocardiorenal syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) rein en fer à cheval true Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Faciocardiorenal syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Faciocardiorenal syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 5
Faciocardiorenal syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein false Inferred relationship Some 5
Faciocardiorenal syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

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