51655004: Congenital anomaly of skull (disorder)

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

\Head finding (finding)\Skull finding (finding)\Disorder of skull (disorder)\Congenital anomaly of skull
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull

\Musculoskeletal finding\Bone finding\Skull finding (finding)\Disorder of skull (disorder)\Congenital anomaly of skull
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	Some
Congenital anomaly of skull	Is a	Disorder of skull (disorder)	true	Inferred relationship	Some
Congenital anomaly of skull	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Congenital anomaly of skull	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of skull	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Congenital anomaly of skull	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of skull	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital anomaly of skull	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Congenital anomaly of skull	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of skull	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of skull	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of skull	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital anomaly of skull	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Some
Congenital anomaly of skull	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of skull	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of skull	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Delayed membranous cranial ossification (disorder)	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Localised congenital skull defect	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.	Is a	False	Congenital anomaly of skull	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	True	Congenital anomaly of skull	Inferred relationship	Some
A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Incomplete ossification of skull (disorder)	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
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	Some
Meningoencephalocele	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
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	Some
Skull congenital deformities	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital plagiocephaly with pelvic obliquity (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
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	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital depression in skull	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital positional plagiocephaly	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Encephalocele	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Derodidymis	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Dicephalus dipus tetrabrachius	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Dicephalus dipus dibrachius	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Dicephalus tripus tribrachius	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Dicephalus dipus tribrachius	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Desmiognathus	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital stricture of osseous meatus	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Fibrous dysplasia of orbit (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant.	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Rhinocephaly	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of internal auditory canal	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Overriding skull bones	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Occipital meningocele (disorder)	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
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	Some
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	Some
Congenital meningocele of orbit (disorder)	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Melorheostosis of skull	Is a	True	Congenital anomaly of skull	Inferred relationship	Some

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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
3000171000005111	kongenit kranieanomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)