FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

57250008: Structure of occipitomastoid suture of skull (body structure)


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
95219018 Occipitomastoid suture of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
497835015 Structure of occipitomastoid suture of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
795851016 Structure of occipitomastoid suture of skull (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2819301000005116 struktur af kraniets sutura occipitomastoidea da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Structure of occipitomastoid suture of skull Is a Structure of lambdoid suture of skull true Inferred relationship Some
Structure of occipitomastoid suture of skull del af Entire lambdoid suture of skull false Additional relationship Some
Structure of occipitomastoid suture of skull Is a Structure of half of head lateral to midsagittal plane (body structure) true Inferred relationship Some
Structure of occipitomastoid suture of skull Is a Joint part true Inferred relationship Some
Structure of occipitomastoid suture of skull Laterality Side true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Entire occipitomastoid suture of skull Is a True Structure of occipitomastoid suture of skull Inferred relationship Some
Occipital encephalocele Finding site True Structure of occipitomastoid suture of skull Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Finding site True Structure of occipitomastoid suture of skull Inferred relationship Some 4
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. Finding site True Structure of occipitomastoid suture of skull Inferred relationship Some 4
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait. Finding site True Structure of occipitomastoid suture of skull Inferred relationship Some 4

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

Back to Start