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720511000: Arrhinia with choanal atresia and microphthalmia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321081010 Arrhinia with choanal atresia and microphthalmia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321082015 Arrhinia with choanal atresia and microphthalmia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321084019 Arhinia, choanal atresia and microphthalmia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3685724016 Ruprecht Majewski syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685725015 Bosma arhinia microphthalmia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685726019 Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3685727011 BAMS - Bosma arhinia microphthalmia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685728018 Gifford Bosma syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685729014 Bosma syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321083013 A malformation disorder with characteristics of complete or incomplete absence of nose, choanal atresia, microphthalmia, anophthalmia and cleft or high palate. 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
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) localisation d'une constatation (attribut) Structure of choana (body structure) true Inferred relationship Some 1
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) Congenital atresia (morphologic abnormality) true Inferred relationship Some 1
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) localisation d'une constatation (attribut) Entire eye true Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) est un(e) (attribut) Microphthalmos true Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) est un(e) (attribut) Congenital absence of nose false Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) est un(e) (attribut) atrésie choanale (trouble) true Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) localisation d'une constatation (attribut) structure nasale true Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) Congenital atresia (morphologic abnormality) false Inferred relationship Some 4
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) localisation d'une constatation (attribut) Structure of choana (body structure) false Inferred relationship Some 4
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 5
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) localisation d'une constatation (attribut) Entire eye 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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