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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
1117951000052111 koanalatresi med radialhypoplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 Some
Choanal atresia with radial ray hypoplasia Finding site External nose structure false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Associated morphology medfödd missbildning false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Occurrence Congenital false Inferred relationship Some
Choanal atresia with radial ray hypoplasia Finding site Structure of choana (body structure) false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Finding site Structure of respiratory system (body structure) false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Associated morphology medfödd deformitet false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Associated morphology medfödd deformitet false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Associated morphology kongenital anomali false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Associated morphology medfödd deformitet false Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia Is a medfödd onormal form på näsan false Inferred relationship Some
Choanal atresia with radial ray hypoplasia Associated morphology Congenital atresia false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Associated morphology Congenital atresia false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Finding site Structure of choana (body structure) false Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Associated morphology medfödd deformitet false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Finding site External nose structure false Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Is a Congenital deformity of nose true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a Disorder of external nose true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Occurrence Congenital true Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia Occurrence Congenital false Inferred relationship Some 4
Choanal atresia with radial ray hypoplasia Finding site Structure of choana (body structure) false Inferred relationship Some 4
Choanal atresia with radial ray hypoplasia Associated morphology Congenital atresia false Inferred relationship Some 4
Choanal atresia with radial ray hypoplasia Associated morphology medfödd deformitet false Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia Finding site External nose structure true Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia Occurrence Congenital true Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Occurrence Congenital true Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Is a 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 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a 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 Is a Finding of bone of upper limb true Inferred relationship Some
Choanal atresia with radial ray hypoplasia Associated morphology Congenital atresia true Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Finding site Structure of choana (body structure) true Inferred relationship Some 1
Choanal atresia with radial ray hypoplasia Associated morphology Hypoplasia true Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Finding site Bone structure of upper limb (body structure) true Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Associated morphology Deformity true Inferred relationship Some 3
Choanal atresia with radial ray hypoplasia Is a Congenital deformity of face (disorder) false Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a Finding of nasal deformity false Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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