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232373003: Choanal atresia with radial ray hypoplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
348140012 Choanal atresia with radial ray hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
620429010 Choanal atresia with radial ray hypoplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701197017 Goldblatt Viljoen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701198010 An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
348140012 Choanal atresia with radial ray hypoplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
348140012 Choanal atresia with radial ray hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
620429010 Choanal atresia with radial ray hypoplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
620429010 Choanal atresia with radial ray hypoplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701197017 Goldblatt Viljoen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701198010 An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3415441001000111 Radiushypoplasie - Choanalatresie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4976301000241112 syndrome d'hypoplasie du rayon radial-atrésie des choanes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4976301000241112 syndrome d'hypoplasie du rayon radial-atrésie des choanes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415441001000111 Radiushypoplasie - Choanalatresie 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
Choanal atresia with radial ray hypoplasia Is a Choanal atresia true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Finding site External nose structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Finding site Structure of choana false Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Finding site Structure of respiratory system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia with radial ray hypoplasia Is a Congenital abnormal shape of nose false Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Finding site Structure of choana false Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Finding site External nose structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Is a Congenital deformity of nose (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a Disorder of external nose (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia with radial ray hypoplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia with radial ray hypoplasia Finding site Structure of choana false Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia with radial ray hypoplasia Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia with radial ray hypoplasia Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia with radial ray hypoplasia Finding site External nose structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia with radial ray hypoplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Is a Congenital hypoplasia of part of upper limb true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia with radial ray hypoplasia Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Is a Finding of bone of upper limb true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Finding site Structure of choana true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Finding site Bone structure of upper limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia with radial ray hypoplasia Associated morphology Deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia with radial ray hypoplasia Is a Congenital deformity of face (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a Finding of nasal deformity false Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Associated morphology Atresia (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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