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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) Is a Microphthalmos true Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Is a Congenital absence of nose false Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Is a Choanal atresia true Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Finding site Nasal structure true Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Some 4
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Finding site Structure of choana (body structure) false Inferred relationship Some 4
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 5
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Finding site Entire eye false Inferred relationship Some 5
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) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Finding site Structure of choana (body structure) true Inferred relationship Some 1
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology Congenital atresia false 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) Finding site Entire eye false Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Finding site Entire eye proper true Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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