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723581006: syndroom van syndactylie, telecanthus en anogenitale en renale malformatie (aandoening)


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
6148961000146117 syndactylie-telecanthus-anogenitale en renale malformatie-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148971000146111 STAR-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6677881000146115 syndroom van syndactylie, telecanthus en anogenitale en renale malformatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6677891000146118 syndroom van syndactylie, telecanthus en anogenitale en renale malformatie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a Syndactyly of toes true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a Congenital structural abnormality of eyelid true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a Anal atresia true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a Telecanthus true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a Genitourinary congenital anomalies true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Finding site Toe structure false Inferred relationship Some 7
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Finding site Toe structure true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology atresie (afwijkende morfologie) false Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Finding site Anal structure false Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Finding site Structure of genitourinary system (body structure) false Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Finding site Structure of palpebral fissure false Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence Congenital 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) Finding site Structure of palpebral fissure true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence Congenital 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Finding site Structure of genitourinary system (body structure) true Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Finding site Anal structure true Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology atresie (afwijkende morfologie) false Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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