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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
5402375015 A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402376019 A malformation disorder characterised by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321081010 Arrhinia with choanal atresia and microphthalmia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5402375015 A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402376019 A malformation disorder characterised by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452901001000117 Arrhinie-Choanalatresie-Mikrophthalmie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5481101000241118 syndrome d'arhinie-atrésie des choanes-microphtalmie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5481101000241118 syndrome d'arhinie-atrésie des choanes-microphtalmie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452901001000117 Arrhinie-Choanalatresie-Mikrophthalmie-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
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Is a Microphthalmos true Inferred relationship Existential restriction modifier (core metadata concept)
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Is a Congenital absence of nose false Inferred relationship Existential restriction modifier (core metadata concept)
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Is a Choanal atresia true Inferred relationship Existential restriction modifier (core metadata concept)
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Finding site Nasal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 4
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Finding site Structure of choana false Inferred relationship Existential restriction modifier (core metadata concept) 4
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 5
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Finding site œil entier false Inferred relationship Existential restriction modifier (core metadata concept) 5
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Finding site Structure of choana true Inferred relationship Existential restriction modifier (core metadata concept) 1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Finding site œil entier false Inferred relationship Existential restriction modifier (core metadata concept) 2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Finding site Entire eye proper true Inferred relationship Existential restriction modifier (core metadata concept) 2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology Atresia (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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