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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
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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Is a Hypoplasia of eye true Inferred relationship Some
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Is a Congenital hypoplasia of nose true Inferred relationship Some
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Some
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 5
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site External nose structure false Inferred relationship Some 5
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site Entire eye false Inferred relationship Some 6
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site Entire eye false Inferred relationship Some 9
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 6
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) false Inferred relationship Some 8
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 9
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some 7
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site Entire eye false Inferred relationship Some 5
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 5
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site External nose structure true Inferred relationship Some 4
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site Entire eye true Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 3
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 2
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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