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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
3701197017 Goldblatt Viljoen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Deformity true Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia est un(e) (attribut) malformation congénitale du visage false Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Finding of nasal deformity false Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) structure de l'appareil respiratoire false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital deformity (morphologic abnormality) false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital deformity (morphologic abnormality) false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital deformity (morphologic abnormality) false Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Congenital abnormal shape of nose false Inferred relationship Some
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital atresia (morphologic abnormality) false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital atresia (morphologic abnormality) false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) Structure of choana (body structure) false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital deformity (morphologic abnormality) false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) structure nasale externe false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Congenital deformity of nose true Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) affection nasale externe true Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) atrésie choanale (trouble) true Inferred relationship Some
Choanal atresia with radial ray hypoplasia survenue (attribut) congénital true Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia survenue (attribut) congénital false Inferred relationship Some 4
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) Structure of choana (body structure) false Inferred relationship Some 4
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital atresia (morphologic abnormality) false Inferred relationship Some 4
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital deformity (morphologic abnormality) false Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) structure nasale externe true Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) structure nasale externe false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia survenue (attribut) congénital false Inferred relationship Some
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) Structure of choana (body structure) false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia survenue (attribut) congénital true Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Choanal atresia with radial ray hypoplasia survenue (attribut) congénital true Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Congenital hypoplasia of part of upper limb true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia est un(e) (attribut) Finding of bone of upper limb true Inferred relationship Some
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Congenital atresia (morphologic abnormality) true Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) Structure of choana (body structure) true Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia localisation d'une constatation (attribut) Bone structure of upper limb (body structure) 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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