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723581006: Syndactyly, telecanthus, anogenital and renal malformation 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
3425169017 Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425170016 Syndactyly, telecanthus, anogenital and renal malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425171017 STAR (syndactyly, telecanthus, anogenital, renal malformation) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425172012 STAR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425173019 Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function. 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
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) localisation d'une constatation (attribut) Structure of genitourinary system true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) localisation d'une constatation (attribut) structure anale true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) Congenital atresia (morphologic abnormality) true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) X-linked dominant hereditary disease (disorder) true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) Syndactyly of toes true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) Congenital anomaly of eyelid true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) Anal atresia true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) Telecanthus true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) anomalies congénitales génito-urinaires true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) localisation d'une constatation (attribut) orteil (structure corporelle) false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) localisation d'une constatation (attribut) orteil (structure corporelle) true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) Congenital atresia (morphologic abnormality) false Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) localisation d'une constatation (attribut) structure anale false Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) localisation d'une constatation (attribut) Structure of genitourinary system false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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