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719948009: Trigonocephaly with bifid nose and acral anomaly 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
3314972019 Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314973012 Trigonocephaly with bifid nose and acral anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314974018 This syndrome has characteristics of trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. It has been described in a brother and his sister born to consanguineous parents. 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 bifid nose and acral anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) localisation d'une constatation (attribut) Structure of frontal suture of skull true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) localisation d'une constatation (attribut) os frontal (structure corporelle) true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Congenital abnormal shape false Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Abnormal shape (morphologic abnormality) true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) est un(e) (attribut) Bifid nose (disorder) true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) est un(e) (attribut) Trigonocephaly true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) est un(e) (attribut) Congenital anomaly of nose false Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) est un(e) (attribut) Congenital anomaly of digit (disorder) true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Bilobed structure false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) localisation d'une constatation (attribut) structure nasale true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Bilobed structure false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) localisation d'une constatation (attribut) structure nasale false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Congenital abnormal shape false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) localisation d'une constatation (attribut) os frontal (structure corporelle) false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Congenital premature fusion false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) localisation d'une constatation (attribut) Structure of frontal suture of skull false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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