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726722009: Hemifacial microsomia with radial defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3452172019 Hemifacial microsomia with radial defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3452173012 Hemifacial microsomia with radial defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3452174018 Moeschler Clarren syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452175017 Oculoauriculovertebral spectrum with radial defects en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3452176016 A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has 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
Hemifacial microsomia with radial defect syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Hemifacial microsomia with radial defect syndrome (disorder) Is a Congenital anomaly of radius true Inferred relationship Some
Hemifacial microsomia with radial defect syndrome (disorder) Is a Hemifacial microsomia true Inferred relationship Some
Hemifacial microsomia with radial defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hemifacial microsomia with radial defect syndrome (disorder) Finding site Bone structure of radius (body structure) true Inferred relationship Some 2
Hemifacial microsomia with radial defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Hemifacial microsomia with radial defect syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 2
Hemifacial microsomia with radial defect syndrome (disorder) Finding site Bone structure of face false Inferred relationship Some 2
Hemifacial microsomia with radial defect syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 3
Hemifacial microsomia with radial defect syndrome (disorder) Finding site Bone structure of radius (body structure) false Inferred relationship Some 3
Hemifacial microsomia with radial defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hemifacial microsomia with radial defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Hemifacial microsomia with radial defect syndrome (disorder) Finding site Bone structure of face true Inferred relationship Some 1
Hemifacial microsomia with radial defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hemifacial microsomia with radial defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hemifacial microsomia with radial defect syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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