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719400000: Lethal faciocardiomelic dysplasia (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3316217010 Lethal faciocardiomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316218017 Lethal faciocardiomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402089018 An extremely rare polymalformative syndrome. 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
Lethal faciocardiomelic dysplasia (disorder) Is a Congenital heart disease true Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Is a Longitudinal deficiency of limb true Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Lethal faciocardiomelic dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 3
Lethal faciocardiomelic dysplasia (disorder) Finding site Face structure false Inferred relationship Some 3
Lethal faciocardiomelic dysplasia (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 4
Lethal faciocardiomelic dysplasia (disorder) Occurrence Congenital false Inferred relationship Some 4
Lethal faciocardiomelic dysplasia (disorder) Finding site Entire limb false Inferred relationship Some 4
Lethal faciocardiomelic dysplasia (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Lethal faciocardiomelic dysplasia (disorder) Occurrence Congenital false Inferred relationship Some 5
Lethal faciocardiomelic dysplasia (disorder) Finding site Structure of left side of heart false Inferred relationship Some 5
Lethal faciocardiomelic dysplasia (disorder) Finding site Structure of left side of heart true Inferred relationship Some 3
Lethal faciocardiomelic dysplasia (disorder) Is a Congenital anomaly of cardiac chamber (disorder) false Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lethal faciocardiomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lethal faciocardiomelic dysplasia (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Lethal faciocardiomelic dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Lethal faciocardiomelic dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 2
Lethal faciocardiomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lethal faciocardiomelic dysplasia (disorder) Finding site Entire limb true Inferred relationship Some 1
Lethal faciocardiomelic dysplasia (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Lethal faciocardiomelic dysplasia (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Lethal faciocardiomelic dysplasia (disorder) Finding site Face structure true Inferred relationship Some 2
Lethal faciocardiomelic dysplasia (disorder) Is a Congenital deformity false Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) Is a Finding of left side of heart (finding) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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