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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
5400157019 A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by 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
5400158012 A rare lethal multiple congenital anomalies/dysmorphic syndrome characterised by 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 Is a Bilateral microphthalmos true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a Akinesia true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a Microtia true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a Movement disorder false Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a Common truncus arteriosus (disorder) true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a Genetic disease true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Interprets Movement false Inferred relationship Some 6
Microphthalmia, microtia, fetal akinesia syndrome Occurrence Congenital true Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome Finding site 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 Occurrence Congenital true Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Finding site External ear structure false Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Congenital smallness false 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 Occurrence Congenital true Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Finding site Entire right eye false Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Congenital smallness false 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 Occurrence Congenital true Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome Finding site Entire left eye false Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Congenital smallness false 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 Occurrence Congenital true Inferred relationship Some 5
Microphthalmia, microtia, fetal akinesia syndrome Finding site Heart structure true Inferred relationship Some 5
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology 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 Associated morphology Persistent truncus arteriosus (morphologic abnormality) true Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome Is a Arthrogryposis multiplex congenita true Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Interprets Range of joint movement true Inferred relationship Some 7
Microphthalmia, microtia, fetal akinesia syndrome Has interpretation Decreased true Inferred relationship Some 7
Microphthalmia, microtia, fetal akinesia syndrome Occurrence Congenital true Inferred relationship Some 6
Microphthalmia, microtia, fetal akinesia syndrome Finding site Structure of joint region true Inferred relationship Some 6
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Contracture true Inferred relationship Some 6
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Microphthalmia, microtia, fetal akinesia syndrome Finding site Entire right eye proper false Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Finding site Entire left eye proper (body structure) true Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome Finding site Entire right eye proper true Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Finding site External ear structure true Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 8
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Contracture true Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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