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764629008: Mosaic trisomy 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
3654265019 Trisomy 5 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654266018 Mosaic trisomy 5 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654267010 Mosaic trisomy 5 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654268017 Mosaic trisomy chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404346013 Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3654265019 Trisomy 5 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654266018 Mosaic trisomy 5 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654267010 Mosaic trisomy 5 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654268017 Mosaic trisomy chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654269013 A rare chromosomal anomaly syndrome with a variable phenotype. Manifestations range from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404346013 Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428331001000113 Mosaik-Trisomie 5 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503861000241117 trisomie 5 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503861000241117 trisomie 5 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428331001000113 Mosaik-Trisomie 5 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
Mosaic trisomy 5 syndrome Is a Anomaly of chromosome pair 5 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 5 syndrome Is a Trisomy and partial trisomy of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 5 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 5 syndrome Finding site Chromosome pair 5 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 5 syndrome Associated morphology Chromosome mosaicism false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 5 syndrome Finding site Chromosome pair 5 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 5 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 5 syndrome Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 5 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 5 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 5 syndrome Associated morphology Chromosome mosaicism true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 5 syndrome Associated morphology Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 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)

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