FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

770944002: oculo-otodentaal syndroom (aandoening)


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
3703553016 Oculootodental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703555011 Oculootodental syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6913251000146112 oculo-otodentaal syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6913261000146110 oculo-otodentaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3703554010 A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. 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
Oculootodental syndrome Occurrence Congenital true Inferred relationship Some 2
Oculootodental syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Oculootodental syndrome Is a Globodontia (disorder) true Inferred relationship Some
Oculootodental syndrome Occurrence Congenital true Inferred relationship Some 3
Oculootodental syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Oculootodental syndrome Finding site Chromosome pair 11 true Inferred relationship Some 1
Oculootodental syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Oculootodental syndrome Occurrence Congenital false Inferred relationship Some 4
Oculootodental syndrome Finding site Long arm of chromosome true Inferred relationship Some 2
Oculootodental syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Oculootodental syndrome Occurrence Congenital true Inferred relationship Some 1
Oculootodental syndrome Interprets Hearing true Inferred relationship Some 5
Oculootodental syndrome Is a Deletion of part of chromosome 11 (disorder) true Inferred relationship Some
Oculootodental syndrome Associated morphology congenitale vergroting false Inferred relationship Some 4
Oculootodental syndrome Finding site Ear structure true Inferred relationship Some 3
Oculootodental syndrome Finding site Tooth structure true Inferred relationship Some 4
Oculootodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculootodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oculootodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculootodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Oculootodental syndrome Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 4
Oculootodental syndrome Is a Disorder of ear true Inferred relationship Some
Oculootodental syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Oculootodental syndrome Finding site Tooth structure false Inferred relationship Some 6
Oculootodental syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 6
Oculootodental syndrome Is a Congenital malformation true Inferred relationship Some
Oculootodental syndrome Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start