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723581006: Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3425170016 Syndactyly, telecanthus, anogenital and renal malformation syndrome en Synonym Active Case insensitive SNOMED CT core
3425171017 STAR (syndactyly, telecanthus, anogenital, renal malformation) syndrome en Synonym Active Case sensitive SNOMED CT core
3425172012 STAR syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence Congenital true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence Congenital true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome Finding site Structure of palpebral fissure true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence Congenital true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome Finding site Structure of genitourinary system true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome Finding site Anal structure true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology Congenital atresia true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a X-linked dominant hereditary disease true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Syndactyly of toes true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Congenital anomaly of eyelid true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a X-linked hereditary disease false Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Anal atresia true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Telecanthus true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Genitourinary congenital anomalies true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence Congenital true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence Congenital false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence Congenital false Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence Congenital false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome Finding site Toe structure false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome Finding site Toe structure true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology Congenital atresia false Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome Finding site Anal structure false Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome Finding site Structure of genitourinary system false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome Finding site Structure of palpebral fissure false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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