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13649004: Brachycephaly (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
23298018 Brachycephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
475438019 Short broad skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
475439010 Wide skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
475440012 Short anteroposterior diameter of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
739047011 Brachycephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4434471000241115 brachycéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444741001000111 Synostose, bikoronare, nicht-syndromale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachycephaly Is a Bicoronal craniosynostosis false Inferred relationship Some
Brachycephaly Is a Congenital abnormality of skull shape false Inferred relationship Some
Brachycephaly Occurrence Congenital false Inferred relationship Some
Brachycephaly Finding site Joint structure of suture of skull false Inferred relationship Some 2
Brachycephaly Associated morphology anomalie congénitale false Inferred relationship Some 2
Brachycephaly Associated morphology anomalie congénitale false Inferred relationship Some 1
Brachycephaly Finding site Bone structure of cranium false Inferred relationship Some 1
Brachycephaly Associated morphology Congenital premature fusion false Inferred relationship Some 2
Brachycephaly Finding site Joint structure of suture of skull false Inferred relationship Some 2
Brachycephaly Finding site Bone structure of cranium true Inferred relationship Some 1
Brachycephaly Finding site Joint structure of suture of skull false Inferred relationship Some 2
Brachycephaly Associated morphology Congenital premature fusion false Inferred relationship Some 2
Brachycephaly Associated morphology anomalie congénitale false Inferred relationship Some 1
Brachycephaly Occurrence Congenital false Inferred relationship Some 3
Brachycephaly Occurrence Congenital false Inferred relationship Some 4
Brachycephaly Finding site Structure of coronal suture of skull false Inferred relationship Some 3
Brachycephaly Finding site Structure of coronal suture of skull false Inferred relationship Some 4
Brachycephaly Associated morphology Congenital abnormal shape false Inferred relationship Some 3
Brachycephaly Associated morphology Congenital premature fusion false Inferred relationship Some 4
Brachycephaly Is a Disorder of skull (disorder) true Inferred relationship Some
Brachycephaly Is a déformation d'un os false Inferred relationship Some
Brachycephaly Associated morphology Deformity true Inferred relationship Some 1
Brachycephaly Is a Deformation of bone true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Education about brachycephaly (procedure) Has focus True Brachycephaly Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. Is a True Brachycephaly Inferred relationship Some
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Is a True Brachycephaly Inferred relationship Some

This concept is not in any reference sets

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