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715409005: C-syndroom (aandoening)


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
6738381000146119 C-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6738391000146117 C-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6738401000146119 OTCS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6738411000146117 trigonocefalie C-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6738421000146110 Opitz-trigonocefaliesyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6738431000146112 trigonocefaliesyndroom van Opitz nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Is a Trigonocephaly true Inferred relationship Some
Trigonocephaly C syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Trigonocephaly C syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Trigonocephaly C syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) Finding site Structure of frontal suture of skull false Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) Associated morphology congenitale afwijkende vorm (afwijkende morfologie) false Inferred relationship Some 3
Trigonocephaly C syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Trigonocephaly C syndrome (disorder) Finding site Frontal bone structure false Inferred relationship Some 3
Trigonocephaly C syndrome (disorder) Associated morphology congenitale afwijkende vorm (afwijkende morfologie) false Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) Finding site Frontal bone structure true Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Trigonocephaly C syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) Finding site Structure of frontal suture of skull true Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Trigonocephaly C syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Trigonocephaly C syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Trigonocephaly C syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Trigonocephaly C syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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