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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
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) Is a Congenital heart disease true Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a Horseshoe kidney true Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Faciocardiorenal syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) Finding site Heart structure false Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Faciocardiorenal syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) Finding site Heart structure true Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 5
Faciocardiorenal syndrome (disorder) Finding site Kidney structure false Inferred relationship Some 5
Faciocardiorenal syndrome (disorder) Finding site Face structure false Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Faciocardiorenal syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) Occurrence Congenital 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Faciocardiorenal syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Faciocardiorenal syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Faciocardiorenal syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Faciocardiorenal syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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