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724281002: syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope (trouble)


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
1014711000172117 syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
760441000241114 syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
878611000172111 syndrome de Bosma-Henkin-Christiansen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3433562011 Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata. 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
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital true Inferred relationship Some 4
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital true Inferred relationship Some 1
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital true Inferred relationship Some 2
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital true Inferred relationship Some 3
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) structure nasale externe true Inferred relationship Some 4
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) Entire eye true Inferred relationship Some 1
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 3
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) Gonadal endocrine structure true Inferred relationship Some 2
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 4
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope est un(e) (attribut) Hypoplasia of eye true Inferred relationship Some
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope est un(e) (attribut) Congenital hypoplasia of nose true Inferred relationship Some
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope est un(e) (attribut) Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Some
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 5
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital false Inferred relationship Some 5
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) structure nasale externe false Inferred relationship Some 5
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital false Inferred relationship Some 6
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) Entire eye false Inferred relationship Some 6
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital false Inferred relationship Some 7
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital false Inferred relationship Some 8
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) congénital false Inferred relationship Some 9
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) Entire eye false Inferred relationship Some 9
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) Congenital smallness false Inferred relationship Some 6
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) Structure of pars distalis of pituitary (body structure) false Inferred relationship Some 8
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 9
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) Gonadal endocrine structure false Inferred relationship Some 7
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope localisation d'une constatation (attribut) Entire eye false Inferred relationship Some 5
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) Congenital smallness false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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