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715409005: Trigonocephaly C syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302500010 Trigonocephaly C syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302501014 Trigonocephaly C syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302502019 C syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302503012 A rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The etiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302504018 A rare multiple congenital anomaly/intellectual disability syndrome characterised by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The aetiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. 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 C syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) localisation d'une constatation (attribut) Structure of frontal suture of skull true Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) morphologie associée (attribut) Abnormal shape (morphologic abnormality) true Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) est un(e) (attribut) Trigonocephaly true Inferred relationship Some
Trigonocephaly C syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Trigonocephaly C syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Trigonocephaly C syndrome (disorder) morphologie associée (attribut) Congenital premature fusion false Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) localisation d'une constatation (attribut) Structure of frontal suture of skull false Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) morphologie associée (attribut) Congenital abnormal shape false Inferred relationship Some 3
Trigonocephaly C syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Trigonocephaly C syndrome (disorder) localisation d'une constatation (attribut) os frontal (structure corporelle) false Inferred relationship Some 3
Trigonocephaly C syndrome (disorder) morphologie associée (attribut) Congenital abnormal shape false Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) localisation d'une constatation (attribut) os frontal (structure corporelle) true Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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