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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
Mandibuloacral dysostosis Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Dilatation of the vestibular aqueduct Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stricture of osseous meatus of middle ear Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Cranial hydromeningocele Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Occipital dysplasia Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Craniorachischisis Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital perforation of wall of nasal sinus Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of wall of nasal sinus Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Monster with cranial anomalies Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atresia of osseous meatus of middle ear Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Podencephalus Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Sinus pericranii Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphosphatasemia tarda Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Median palatal cyst (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Ecchordosis physaliphora (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Frontal bossing Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of cranial vault Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of jaw (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Deformity of nasal sinus wall Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital perforation of the nasal sinus wall Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebral meningocele Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Cranial duplication Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Anencephalus (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Deformity of nasal sinus wall Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital perforation of the nasal sinus wall Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Hydrencephalomeningocele Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of wall of nasal sinus Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Monster with cranial anomalies Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Eruption cyst of jaw (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atresia of osseous meatus of middle ear Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of organ of Corti Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
hydroméningocèle crânienne congénitale Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Iniencephaly Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of alisphenoid bone Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital retrognathism Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Holoanencephaly (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital macrognathism Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis of bone of skull Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of maxilla Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital micrognathism Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital prognathism Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Hemianencephaly Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Lateral developmental cyst of jaw Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stricture of osseous meatus of middle ear Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of nasal turbinate Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fenestration of supraoccipital bone Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of supraoccipital bone Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of nasal turbinate Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of organ of Corti Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Bipartite ossification of supraoccipital bone Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Craniorachischisis Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital enlargement of fontanel Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of frontal bone Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of zygomatic bone Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of exoccipital bone Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of squamosal bone (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of interparietal bone Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of basioccipital bone (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of palatine bone Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of parietal bone (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nasal bone Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of skull shape Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of skull bone Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes affecting facial appearance Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of sphenoid wing Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Bicoronal craniosynostosis Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypertrophy of sphenoid bone (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephaly Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Defect of skull ossification (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Interparietal craniosynostosis (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Parieto-occipital craniosynostosis Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Spheno-fronto-parietal craniofaciosynostosis Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Atlanto-occipital malformation Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Cranioschisis Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull syndrome Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Unicoronal craniosynostosis Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Cranial duplication Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Craniotabes Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital enlargement of fontanel Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Craniolacunia Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Acrobrachycephaly Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Cardiocranial syndrome Pfeiffer type (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Cranioosteoarthropathy (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial conodysplasia syndrome (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Derencephalus Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Atretocephalus Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Synotus Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis fibular aplasia syndrome (disorder) Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Congenital J shaped sella turcica Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Diastematocrania Is a False Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)
Delayed membranous cranial ossification (disorder) Is a True Congenital anomaly of skull Inferred relationship Existential restriction modifier (core metadata concept)

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