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719949001: Trigonocephaly with broad thumb 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
3314976016 Trigonocephaly with broad thumb syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318436014 Trigonocephaly with broad thumb syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318556013 Hunter Rudd Hoffmann syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318557016 This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is 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
Trigonocephaly with broad thumb syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Trigonocephaly with broad thumb syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Trigonocephaly with broad thumb syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 3
Trigonocephaly with broad thumb syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) Congenital abnormal shape false Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) os frontal (structure corporelle) true Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) structure nasale true Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) Structure of frontal suture of skull true Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) Abnormal shape (morphologic abnormality) true Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Trigonocephaly true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Disorder of hand (disorder) true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Congenital anomaly of nose true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Broad thumbs true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) Congenital anomaly of digit (disorder) true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) pouce true Inferred relationship Some 6
Trigonocephaly with broad thumb syndrome (disorder) interprète (attribut) Form of thumb false Inferred relationship Some 5
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) Congenital abnormal shape false Inferred relationship Some 6
Trigonocephaly with broad thumb syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) os frontal (structure corporelle) false Inferred relationship Some 6
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Trigonocephaly with broad thumb syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) structure nasale false Inferred relationship Some 7
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Trigonocephaly with broad thumb syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 8
Trigonocephaly with broad thumb syndrome (disorder) morphologie associée (attribut) Congenital premature fusion false Inferred relationship Some 9
Trigonocephaly with broad thumb syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Trigonocephaly with broad thumb syndrome (disorder) localisation d'une constatation (attribut) Structure of frontal suture of skull false Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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