FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

765487008: Ring chromosome 5 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3658959017 Ring chromosome 5 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658960010 Ring chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658961014 Ring chromosome 5 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404548013 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404549017 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterised by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3658959017 Ring chromosome 5 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658960010 Ring chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658961014 Ring chromosome 5 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658962019 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (for example hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404548013 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404549017 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterised by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423061001000112 Ringchromosom 5-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874971000172116 syndrome du chromosome 5 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977761000172110 chromosome 5 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874971000172116 syndrome du chromosome 5 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977761000172110 chromosome 5 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423061001000112 Ringchromosom 5-Syndrom 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
Ring chromosome 5 syndrome Is a Anomaly of chromosome pair 5 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 5 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 5 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 5 syndrome Associated morphology Ring chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 5 syndrome Finding site Chromosome pair 5 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 5 syndrome Is a Ring chromosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 5 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 5 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start