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726724005: syndroom van splenogonadale fusie, defect van extremiteit en micrognathie (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
3452222014 Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3452223016 Splenogonadal fusion, limb defect, micrognathia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3452224010 SGFLD (splenogonadal fusion limb defect syndrome) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452225011 Splenogonadal fusion limb defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6375441000146111 SGFLD-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6975051000146113 syndroom van splenogonadale fusie, defect van extremiteit en micrognathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6975071000146117 syndroom van splenogonadale fusie, defect van extremiteit en micrognathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3452226012 A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It may also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. 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
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Congenital micrognathism true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Splenogonadal fusion true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Longitudinal deficiency of limb true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Dysostosis true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 9
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Entire limb false Inferred relationship Some 9
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Gonadal structure false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 10
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Bone structure false Inferred relationship Some 10
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 7
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Bone structure of mandible false Inferred relationship Some 7
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 8
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Splenic structure false Inferred relationship Some 8
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Gonadal structure false Inferred relationship Some 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Splenic structure false Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 4
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Entire limb true Inferred relationship Some 4
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Bone structure true Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Congenital deformity false Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Gonadal structure true Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site Splenic structure true Inferred relationship Some 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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