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1228886008: 9q33.3q34.11 microdeletion syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5063612017 9q33.3q34.11 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063613010 Deletion 9q33.3q34.11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063614016 9q33.3q34.11 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5063615015 Monosomy 9q33.3q34.11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400058010 A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400059019 A partial monosomy of the long arm of chromosome 9 characterised by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias. 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
9q33.3q34.11 microdeletion syndrome Is a Intellectual disability true Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Is a Short stature disorder true Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Is a Developmental delay true Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Is a 9q partial monosomy syndrome true Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Interprets Body height measure (observable entity) true Inferred relationship Some 4
9q33.3q34.11 microdeletion syndrome Has interpretation Below reference range true Inferred relationship Some 4
9q33.3q34.11 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 1
9q33.3q34.11 microdeletion syndrome Finding site Chromosome pair 9 true Inferred relationship Some 1
9q33.3q34.11 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
9q33.3q34.11 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 3
9q33.3q34.11 microdeletion syndrome Finding site Chromosome pair 9 true Inferred relationship Some 3
9q33.3q34.11 microdeletion syndrome Associated morphology Deletion of long arm true Inferred relationship Some 3
9q33.3q34.11 microdeletion syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
9q33.3q34.11 microdeletion syndrome Has interpretation Impaired true Inferred relationship Some 5
9q33.3q34.11 microdeletion syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
9q33.3q34.11 microdeletion syndrome Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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