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773404000: Roifman syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3723412017 Roifman syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3723413010 Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3723414016 Roifman syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Roifman syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Roifman syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Roifman syndrome Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier
Roifman syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Roifman syndrome Is a Immuno-osseous dysplasia true Inferred relationship Existential restriction modifier
Roifman syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Roifman syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Roifman syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Roifman syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Roifman syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Roifman syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Roifman syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 2
Roifman syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Roifman syndrome Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 3
Roifman syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Roifman syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Roifman syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Roifman syndrome Interprets Height / growth measure true Inferred relationship Existential restriction modifier 4
Roifman syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Roifman syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Roifman syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 6
Roifman syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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