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773332008: Craniosynostosis and dental anomalies syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3723210011 Kreiborg Pakistani syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723213013 Craniosynostosis and dental anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723214019 Craniosynostosis and dental anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723215018 A rare genetic cranial malformation syndrome with characteristics of premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (for example finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723210011 Kreiborg Pakistani syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723213013 Craniosynostosis and dental anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723214019 Craniosynostosis and dental anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723215018 A rare genetic cranial malformation syndrome with characteristics of premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (for example finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3417851001000117 Kraniosynostose und Zahnanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5896541000241114 syndrome de craniosynostose et anomalies dentaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5896551000241112 syndrome de Kreiborg-Pakistani fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5896561000241110 syndrome de craniosténose et anomalies dentaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5896541000241114 syndrome de craniosynostose et anomalies dentaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5896551000241112 syndrome de Kreiborg-Pakistani fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5896561000241110 syndrome de craniosténose et anomalies dentaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417851001000117 Kraniosynostose und Zahnanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniosynostosis and dental anomalies syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis and dental anomalies syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis and dental anomalies syndrome Is a Craniosynostosis syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis and dental anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis and dental anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis and dental anomalies syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis and dental anomalies syndrome Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis and dental anomalies syndrome Is a Congenital anomaly of tooth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis and dental anomalies syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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