128219005: Dysostosis of bone of skull (disorder)

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

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

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysostosis of bone of skull	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis of bone of skull	Is a	Congenital abnormality of skull and face bones (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis of bone of skull	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis of bone of skull	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis of bone of skull	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis of bone of skull	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis of bone of skull	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis of bone of skull	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysostosis of bone of skull	Finding site	Entire bone of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis of bone of skull	Is a	Congenital anomaly of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis of bone of skull	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis of bone of skull	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis of bone of skull	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysostosis of bone of skull	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysostosis of bone of skull	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysostosis of bone of skull	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis of bone of skull	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Otomandibular dysostosis (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Intermandibular dysostosis (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Temporo-auro-mandibular dysostosis (disorder)	Is a	False	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Zygo-auro-mandibular dysostosis	Is a	False	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Temporo-aural dysostosis	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Maxillary dysostosis (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Maxillo-zygomatic dysostosis	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Naso-maxillary dysostosis	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Intermaxillo-palatine dysostosis	Is a	False	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Premaxillo-maxillary dysostosis	Is a	False	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Internasal dysostosis (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontal dysostosis	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Sphenoidal dysostosis (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleidocranial dysostosis	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Temporo-auro-mandibular dysostosis (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Zygo-auro-mandibular dysostosis	Is a	False	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Mirror hands and feet co-occurrent with nasal defect	Is a	False	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontofacionasal dysplasia syndrome (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocraniofacial dysostosis (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Is a	False	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomandibular faciocranial dysostosis is a cranial malformation characterised by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia sequence	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculomaxillofacial dysostosis	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	Is a	True	Dysostosis of bone of skull	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
206467018	Dysostosis of bone of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732184010	Dysostosis of bone of skull (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
206467018	Dysostosis of bone of skull	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
206467018	Dysostosis of bone of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732184010	Dysostosis of bone of skull (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
732184010	Dysostosis of bone of skull (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4788001000241113	dysostose des os du crâne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4788001000241113	dysostose des os du crâne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module