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733030003: Congenital hypoplasia of ulna and split foot syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498603011 Van den Berghe Dequecker syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498604017 Congenital hypoplasia of ulna and split foot syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498605016 Ulnar hypoplasia lobster-claw deformity of feet syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498606015 Congenital hypoplasia of ulna and split foot syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499936019 Syndrome with the association of severe ulnar hypoplasia, absence of fingers two to five and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. 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
Congenital hypoplasia of ulna and split foot syndrome (disorder) localisation d'une constatation (attribut) Entire finger true Inferred relationship Some 3
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 3
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome (disorder) localisation d'une constatation (attribut) ulna true Inferred relationship Some 2
Congenital hypoplasia of ulna and split foot syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Congenital hypoplasia of ulna and split foot syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 2
Congenital hypoplasia of ulna and split foot syndrome (disorder) localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Congenital hypoplasia of ulna and split foot syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Congenital hypoplasia of ulna and split foot syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Congenital hypoplasia of ulna and split foot syndrome (disorder) localisation d'une constatation (attribut) Entire lesser toe true Inferred relationship Some 4
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 4
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 3
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) Congenital absence of finger (disorder) true Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of ulna true Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) Split foot true Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 5
Congenital hypoplasia of ulna and split foot syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Congenital hypoplasia of ulna and split foot syndrome (disorder) localisation d'une constatation (attribut) ulna false Inferred relationship Some 5
Congenital hypoplasia of ulna and split foot syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Congenital hypoplasia of ulna and split foot syndrome (disorder) localisation d'une constatation (attribut) pied (structure corporelle) false Inferred relationship Some 4
Congenital hypoplasia of ulna and split foot syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 6
Congenital hypoplasia of ulna and split foot syndrome (disorder) localisation d'une constatation (attribut) Entire finger false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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