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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
5403120012 A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403121011 A rare malformation syndrome characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403120012 A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403121011 A rare malformation syndrome characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
602601000274118 STAR-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428351001000116 Syndaktylie-Telekanthus-anogenitale und renale Fehlbildungen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602601000274118 STAR-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428351001000116 Syndaktylie-Telekanthus-anogenitale und renale Fehlbildungen-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
STAR syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a Syndactyly of toes true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a Congenital anomaly of eyelid true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a Anal atresia true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a Telecanthus (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a Genitourinary congenital anomalies true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
STAR syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
STAR syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
STAR syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
STAR syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 7
STAR syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
STAR syndrome Finding site Toe structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
STAR syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
STAR syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
STAR syndrome Finding site Toe structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
STAR syndrome Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 4
STAR syndrome Finding site Anal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
STAR syndrome Finding site Structure of genitourinary system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
STAR syndrome Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier (core metadata concept) 6
STAR syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
STAR syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
STAR syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
STAR syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
STAR syndrome Finding site Structure of palpebral fissure true Inferred relationship Existential restriction modifier (core metadata concept) 2
STAR syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
STAR syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
STAR syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
STAR syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
STAR syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
STAR syndrome Finding site Structure of genitourinary system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
STAR syndrome Finding site Anal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
STAR syndrome Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 1
STAR syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
STAR syndrome Associated morphology Atresia (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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