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28740008: Trigonocephaly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
48118018 Trigonocephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
48119014 Trigonocephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
48120015 Trigonocephalia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759453014 Trigonocephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1226057019 Triangular skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4482441000241113 trigonocéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


8 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trigonocephaly Is a Congenital anomaly of joint false Inferred relationship Some
Trigonocephaly Is a Congenital abnormality of skull shape false Inferred relationship Some
Trigonocephaly Finding site Structure of frontal suture of skull false Inferred relationship Some 1
Trigonocephaly Occurrence Congenital false Inferred relationship Some
Trigonocephaly Associated morphology anomalie congénitale false Inferred relationship Some 1
Trigonocephaly Is a Cranial suture finding false Inferred relationship Some
Trigonocephaly Is a Congenital anomaly of bone and joint false Inferred relationship Some
Trigonocephaly Associated morphology anomalie congénitale false Inferred relationship Some 2
Trigonocephaly Finding site Bone structure of cranium false Inferred relationship Some 2
Trigonocephaly Occurrence Congenital false Inferred relationship Some 3
Trigonocephaly Finding site Bone structure of cranium false Inferred relationship Some 3
Trigonocephaly Is a Arthropathy (disorder) false Inferred relationship Some
Trigonocephaly Associated morphology Congenital abnormal shape false Inferred relationship Some 3
Trigonocephaly Occurrence Congenital true Inferred relationship Some 2
Trigonocephaly Finding site Structure of frontal suture of skull true Inferred relationship Some 2
Trigonocephaly Is a Congenital anomaly of bone and joint true Inferred relationship Some
Trigonocephaly Is a Congenital abnormal shape of frontal bone true Inferred relationship Some
Trigonocephaly Occurrence Congenital false Inferred relationship Some 4
Trigonocephaly Associated morphology Congenital premature fusion false Inferred relationship Some 2
Trigonocephaly Associated morphology Congenital abnormal shape false Inferred relationship Some 4
Trigonocephaly Finding site Frontal bone structure false Inferred relationship Some 4
Trigonocephaly Is a Imperfect fusion of skull false Inferred relationship Some
Trigonocephaly Occurrence Congenital true Inferred relationship Some 1
Trigonocephaly Associated morphology Congenital abnormal shape false Inferred relationship Some 1
Trigonocephaly Finding site Frontal bone structure true Inferred relationship Some 1
Trigonocephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trigonocephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trigonocephaly Is a Craniosynostosis syndrome true Inferred relationship Some
Trigonocephaly Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Some 1
Trigonocephaly Associated morphology Premature fusion true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
C syndrome is 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. Is a True Trigonocephaly Inferred relationship Some
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. Is a True Trigonocephaly Inferred relationship Some
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Is a True Trigonocephaly Inferred relationship Some
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. Is a True Trigonocephaly Inferred relationship Some
Interfrontal craniofaciosynostosis Is a True Trigonocephaly Inferred relationship Some
Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture. Is a False Trigonocephaly Inferred relationship Some
Cranio-orbital remodelling for trigonocephaly Has focus True Trigonocephaly Inferred relationship Some 2

Reference Sets

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