FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  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
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
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
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
524551000274113 Syndrom mit Mikrophthalmie, Mikrotie und fetaler Akinesie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384371001000118 Mikrophthalmie - Mikrotie - fetale Akinesie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
524551000274113 Syndrom mit Mikrophthalmie, Mikrotie und fetaler Akinesie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384371001000118 Mikrophthalmie - Mikrotie - fetale Akinesie 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
Microphthalmia, microtia, fetal akinesia syndrome Is a Bilateral microphthalmos true Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Is a Akinesia true Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Is a Microtia true Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Is a Movement disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Is a Common truncus arteriosus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Interprets Movement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Microphthalmia, microtia, fetal akinesia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmia, microtia, fetal akinesia syndrome Finding site Structure of truncus arteriosus of fetus true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmia, microtia, fetal akinesia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Finding site External ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microphthalmia, microtia, fetal akinesia syndrome Finding site œil droit entier false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microphthalmia, microtia, fetal akinesia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microphthalmia, microtia, fetal akinesia syndrome Finding site œil gauche entier false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microphthalmia, microtia, fetal akinesia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Microphthalmia, microtia, fetal akinesia syndrome Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Abnormal communication (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Persistent truncus arteriosus (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmia, microtia, fetal akinesia syndrome Is a A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. true Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 7
Microphthalmia, microtia, fetal akinesia syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 7
Microphthalmia, microtia, fetal akinesia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Microphthalmia, microtia, fetal akinesia syndrome Finding site Structure of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 6
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 6
Microphthalmia, microtia, fetal akinesia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Microphthalmia, microtia, fetal akinesia syndrome Finding site Entire right eye proper (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microphthalmia, microtia, fetal akinesia syndrome Finding site Entire left eye proper (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microphthalmia, microtia, fetal akinesia syndrome Finding site Entire right eye proper (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Finding site External ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microphthalmia, microtia, fetal akinesia syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 8
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start