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724281002: Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism 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
5403300017 This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403301018 This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433559013 Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3433560015 Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3433561016 Bosma Henkin Christiansen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
878611000172111 syndrome de Bosma-Henkin-Christiansen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014711000172117 syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602771000274117 Arhinie-Mikrophthalmie-Syndrom Bosma de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425341001000114 Hyposmie-nasale und okuläre Hypoplasie-hypogonadotroper Hypogonadismus-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
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Is a Hypoplasia of eye true Inferred relationship Some
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Is a Congenital hypoplasia of nose true Inferred relationship Some
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Some
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology Congenital hypoplasia false Inferred relationship Some 5
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital false Inferred relationship Some 5
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site External nose structure false Inferred relationship Some 5
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital false Inferred relationship Some 6
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site œil entier false Inferred relationship Some 6
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital false Inferred relationship Some 7
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital false Inferred relationship Some 8
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital false Inferred relationship Some 9
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site œil entier false Inferred relationship Some 9
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology Congenital smallness false Inferred relationship Some 6
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site Structure of distal part of pituitary false Inferred relationship Some 8
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology Congenital hypoplasia false Inferred relationship Some 9
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site Gonadal endocrine structure false Inferred relationship Some 7
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site œil entier false Inferred relationship Some 5
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology Congenital smallness false Inferred relationship Some 5
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital true Inferred relationship Some 4
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital true Inferred relationship Some 1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital true Inferred relationship Some 2
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence Congenital true Inferred relationship Some 3
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site External nose structure true Inferred relationship Some 4
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site œil entier false Inferred relationship Some 1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site Structure of distal part of pituitary true Inferred relationship Some 3
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site Gonadal endocrine structure true Inferred relationship Some 2
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology Hypoplasia true Inferred relationship Some 1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology Hypoplasia true Inferred relationship Some 4
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site Entire eye proper true Inferred relationship Some 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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