FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Craniosynostosis and dental anomalies syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Craniosynostosis and dental anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) syndrome de craniosynostose (trouble) true Inferred relationship Some
Craniosynostosis and dental anomalies syndrome morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 2
Craniosynostosis and dental anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 2
Craniosynostosis and dental anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 1
Craniosynostosis and dental anomalies syndrome localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 1
Craniosynostosis and dental anomalies syndrome localisation d'une constatation (attribut) Joint structure of suture of skull true Inferred relationship Some 2
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) Congenital anomaly of tooth (disorder) true Inferred relationship Some
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniosynostosis and dental anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Craniosynostosis and dental anomalies syndrome localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start