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726724005: Splenogonadal fusion, limb defect, micrognathia 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
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
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) survenue (attribut) congénital true Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) survenue (attribut) congénital 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) localisation d'une constatation (attribut) Gonadal structure true 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) survenue (attribut) congénital 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) survenue (attribut) congénital 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) survenue (attribut) congénital 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) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) structure de la rate true Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 4
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule true Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) Entire limb true Inferred relationship Some 4
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) face 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) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Congenital micrognathism true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Splenogonadal fusion true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Longitudinal deficiency of limb true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Dysostosis true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 9
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) Entire limb false Inferred relationship Some 9
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) Gonadal structure false Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 10
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 10
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 7
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule false Inferred relationship Some 7
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 8
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) localisation d'une constatation (attribut) structure de la rate false Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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