118945008: Disorder of skull (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Skull finding\Disorder of skull (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)

\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)
\Disease\Disorder of head (disorder)\Disorder 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

2461342015 Disorder of skull (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2469921014 Disorder of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6000911000241117 affection crânienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6000921000241112 affection du crâne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of skull (disorder)	Is a	Disorder of head (disorder)	true	Inferred relationship	Some
Disorder of skull (disorder)	Is a	Disorder of musculoskeletal system (disorder)	false	Inferred relationship	Some
Disorder of skull (disorder)	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Disorder of skull (disorder)	Is a	Disorder of bone (disorder)	true	Inferred relationship	Some
Disorder of skull (disorder)	Is a	Skull finding	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of vomer	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Disorder of maxilla	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Petrositis	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Malignant otitis externa	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Disorder of bony orbit (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Postural plagiocephaly	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Hypertelorism	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Deformity of nasal sinus wall	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Otosclerosis involving round window	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Nonobliterative otosclerosis involving oval window	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Hypertelorism	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Obliterative otosclerosis involving oval window	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Round window fistula	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Oval window fistula	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Platybasia	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Basilar skull invagination (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Stenosis of foramen magnum (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Occipital meningocele (disorder)	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Osteoporosis circumscripta	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Nonsyndromic premature fusion of multiple sutures.	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Nonsyndromic premature fusion of a single suture.	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Iniencephaly	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
hydroméningocèle crânienne congénitale	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Holoanencephaly (disorder)	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Congenital perforation of the nasal sinus wall	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Ecchordosis physaliphora	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Incomplete ossification of supraoccipital bone	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Congenital cerebral meningocele	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Hydrencephalomeningocele	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Congenital prognathism	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Congenital macrognathism	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Congenital enlargement of fontanel	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Fronto-parietal craniofaciosynostosis	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Spheno-frontal dysostosis	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Interfrontal craniofaciosynostosis	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Frontal bossing	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Jaw congenital deformities	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Encephalocele	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Localised congenital skull defect	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Parieto-occipital craniosynostosis	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Fronto-frontal dysostosis (disorder)	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Cochlear hydrops (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Plagiocephaly	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Craniosynostosis syndrome	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Brachycephaly	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Perinatal skull defect	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Acquired defect of skull (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Empty sella syndrome (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Cephalhematoma deformans of Schuller (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Exostosis of skull (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Cystic dermoid choristoma of skull	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Early fontanel closure	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Late fontanel closure	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Stewart-Morel-Morgagni syndrome (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Laceration of brain with open intracranial wound	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Coalescing osteitis of petrous bone	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Malignant otitis externa of left external auditory canal (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Malignant otitis externa of right external auditory canal (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Benign positional paroxysmal vertigo posterior canal (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Perinatal occipital diastasis	Is a	False	Disorder of skull (disorder)	Inferred relationship	Some
Infection of cranial bone flap	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Multiple injuries of bone of cranium (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some
Localized lesion of bone of cranium (disorder)	Is a	True	Disorder of skull (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
2461342015	Disorder of skull (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2469921014	Disorder of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6000911000241117	affection crânienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6000921000241112	affection du crâne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module