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719021005: DK phocomelia syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3313362018 DK phocomelia syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3313363011 DK phocomelia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3313634018 Von Voss-Cherstvoy syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3313635017 Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
DK phocomelia syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a Encephalocele true Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a Genitourinary congenital anomalies true Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a Hereditary thrombocytopenic disorder true Inferred relationship Existential restriction modifier
DK phocomelia syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 4
DK phocomelia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
DK phocomelia syndrome Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Existential restriction modifier 6
DK phocomelia syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier 6
DK phocomelia syndrome Finding site Bone structure of head false Inferred relationship Existential restriction modifier 4
DK phocomelia syndrome Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier 4
DK phocomelia syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 5
DK phocomelia syndrome Interprets Platelet count true Inferred relationship Existential restriction modifier 5
DK phocomelia syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 7
DK phocomelia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
DK phocomelia syndrome Finding site Structure of genitourinary system false Inferred relationship Existential restriction modifier 7
DK phocomelia syndrome Is a Congenital thrombocytopenia true Inferred relationship Existential restriction modifier
DK phocomelia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
DK phocomelia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
DK phocomelia syndrome Finding site Structure of genitourinary system true Inferred relationship Existential restriction modifier 1
DK phocomelia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
DK phocomelia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
DK phocomelia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
DK phocomelia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
DK phocomelia syndrome Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Existential restriction modifier 3
DK phocomelia syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 4
DK phocomelia syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier 3
DK phocomelia syndrome Interprets Hemostatic function true Inferred relationship Existential restriction modifier 2
DK phocomelia syndrome Has interpretation Abnormal false Inferred relationship Existential restriction modifier 2
DK phocomelia syndrome Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
DK phocomelia syndrome Associated morphology Developmental failure of fusion true Inferred relationship Existential restriction modifier 4
DK phocomelia syndrome Associated morphology Herniated structure true Inferred relationship Existential restriction modifier 3
DK phocomelia syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier 3
DK phocomelia syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier 2
DK phocomelia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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