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719948009: Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3314973012 Trigonocephaly with bifid nose and acral anomaly syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Pathological process Pathological developmental process true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome Occurrence Congenital true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome Occurrence Congenital true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome Occurrence Congenital true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Congenital premature fusion true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome Finding site Structure of frontal suture of skull true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome Finding site Frontal bone structure true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Congenital abnormal shape false Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome Finding site Digit structure true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Abnormal shape true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome Is a Bifid nose true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome Is a Trigonocephaly true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome Is a Congenital anomaly of nose false Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome Is a Congenital anomaly of digit true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Bilobed structure false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome Occurrence Congenital true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome Finding site Nasal structure true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome Occurrence Congenital false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome Occurrence Congenital false Inferred relationship Some 6
Trigonocephaly with bifid nose and acral anomaly syndrome Occurrence Congenital false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Bilobed structure false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome Finding site Nasal structure false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Congenital abnormal shape false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome Finding site Frontal bone structure false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Congenital premature fusion false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome Finding site Structure of frontal suture of skull false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Trigonocephaly with bifid nose and acral anomaly syndrome Finding site Digit structure false Inferred relationship Some 6

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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