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715409005: Trigonocephaly C syndrome (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3302501014 Trigonocephaly C syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3302502019 C syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
C syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
C syndrome Occurrence Congenital true Inferred relationship Some 1
C syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
C syndrome Associated morphology Congenital premature fusion true Inferred relationship Some 1
C syndrome Finding site Structure of frontal suture of skull true Inferred relationship Some 1
C syndrome Associated morphology Abnormal shape true Inferred relationship Some 2
C syndrome Interprets Intellectual ability true Inferred relationship Some 3
C syndrome Has interpretation Impaired true Inferred relationship Some 3
C syndrome Interprets Adaptation behaviour true Inferred relationship Some 4
C syndrome Has interpretation Impaired true Inferred relationship Some 4
C syndrome Is a Trigonocephaly true Inferred relationship Some
C syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
C syndrome Is a Intellectual disability false Inferred relationship Some
C syndrome Associated morphology Congenital premature fusion false Inferred relationship Some 2
C syndrome Occurrence Congenital true Inferred relationship Some 2
C syndrome Finding site Structure of frontal suture of skull false Inferred relationship Some 2
C syndrome Associated morphology Congenital abnormal shape false Inferred relationship Some 3
C syndrome Occurrence Congenital false Inferred relationship Some 3
C syndrome Finding site Frontal bone structure false Inferred relationship Some 3
C syndrome Associated morphology Congenital abnormal shape false Inferred relationship Some 2
C syndrome Finding site Frontal bone structure true Inferred relationship Some 2
C syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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