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

1230344000: Microphthalmia, microtia, fetal akinesia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5069348015 Microphthalmia, microtia, foetal akinesia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5069349011 Microphthalmia, microtia, fetal akinesia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5069350011 Microphthalmia, microtia, fetal akinesia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5069351010 Thomas Jewett Raines syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5069354019 A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. 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
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) Bilateral microphthalmos true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) Akinesia true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) microtie (trouble) true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) Movement disorder true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) Common arterial trunk (truncus arteriosus) true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) Genetic disease true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome interprète (attribut) Movement (observable entity) true Inferred relationship Some 6
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) congénital true Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome localisation d'une constatation (attribut) Structure of truncus arteriosus of fetus true Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) congénital true Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome localisation d'une constatation (attribut) oreille externe (structure corporelle) true Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome morphologie associée (attribut) Congenital smallness true Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) congénital true Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome localisation d'une constatation (attribut) œil droit entier true Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome morphologie associée (attribut) Congenital smallness true Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) congénital true Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome localisation d'une constatation (attribut) œil gauche entier true Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome morphologie associée (attribut) Congenital smallness true Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) congénital true Inferred relationship Some 5
Microphthalmia, microtia, fetal akinesia syndrome localisation d'une constatation (attribut) cœur true Inferred relationship Some 5
Microphthalmia, microtia, fetal akinesia syndrome morphologie associée (attribut) Abnormal communication true Inferred relationship Some 5
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Microphthalmia, microtia, fetal akinesia syndrome morphologie associée (attribut) Persistent truncus arteriosus (morphologic abnormality) true Inferred relationship Some 1

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