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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
5402277014 A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402278016 A rare multiple congenital anomalies/dysmorphic syndrome characterised by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. 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) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Is a Trigonocephaly true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Is a Congenital anomaly of nose false Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Is a Congenital anomaly of digit (disorder) true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Bilobed structure false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Finding site Nasal structure true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Bilobed structure false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Finding site Nasal structure false Inferred relationship Some 5
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Congenital abnormal shape false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Finding site Frontal bone structure false Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Finding site Structure of frontal suture of skull false Inferred relationship Some 7
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Finding site Digit structure false Inferred relationship Some 6
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) Occurrence Congenital true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Occurrence Congenital 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) Occurrence Congenital 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) Associated morphology Congenital premature fusion false Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Finding site Structure of frontal suture of skull true Inferred relationship Some 2
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Finding site Frontal bone structure true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Congenital abnormal shape false Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Finding site Digit structure true Inferred relationship Some 3
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Some 1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Is a Bifid nose (disorder) true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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