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51655004: Congenital anomaly of skull (disorder)

Status: current, 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
86021011 Congenital anomaly of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
86024015 Congenital skull malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
789578015 Congenital anomaly of skull (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
86021011 Congenital anomaly of skull en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
86021011 Congenital anomaly of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
86024015 Congenital skull malformation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
86024015 Congenital skull malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
789578015 Congenital anomaly of skull (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
789578015 Congenital anomaly of skull (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
377231000195112 malformazione congenita del cranio it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
661171000274112 Angeborene Schädelfehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
86191000172115 anomalie congénitale du crâne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
86191000172115 anomalie congénitale du crâne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
377231000195112 malformazione congenita del cranio it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
661171000274112 Angeborene Schädelfehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

279 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skull Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Is a Disease of skull true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skull Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skull Is a Ear, face and neck congenital anomalies (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skull Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skull Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skull Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skull Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skull Is a Congenital abnormality of skull and face bones (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skull Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skull Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Delayed membranous cranial ossification (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Localized congenital skull defect (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of skull (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Meningoencephalocele Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Skull congenital deformities Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital plagiocephaly with pelvic obliquity (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital depression in skull Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital positional plagiocephaly Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Encephalocele Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
derodidymis Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Dicephalus dipus tetrabrachius Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Dicephalus dipus dibrachius Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Dicephalus tripus tribrachius Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Dicephalus dipus tribrachius Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Desmiognathus Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stricture of osseous meatus Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Fibrous dysplasia of orbit (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Muenke syndrome Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Rhinocephaly Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of internal auditory canal Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Saethre-Chotzen syndrome Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Overriding skull bones Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Occipital meningocele (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases. Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital meningocele of orbit (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of skull Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)

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