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733417008: Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499396013 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3499397016 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3499988014 Syndrome with characteristics of Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital true Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Entire head false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Cerebellar vermis structure true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Congenital enlargement false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Face structure true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Structure of visual system true Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Congenital cavitation false Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Hypoplasia true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Fourth ventricle structure false Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Congenital malrotation true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Cerebellar vermis structure true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Cystic dilatation true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Enlargement false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Cystic dilatation true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Fourth ventricle structure true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Infratentorial brain structure true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Congenital macrocephaly true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Has interpretation Above reference range true Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Interprets Head circumference true Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Interprets Intellectual ability true Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Has interpretation Impaired true Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Interprets Adaptation behaviour true Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Has interpretation Impaired true Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Dandy-Walker syndrome true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Macrocephaly false Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Severe myopia true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Intellectual disability false Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital false Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Congenital cavitation false Inferred relationship Some 10
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Infratentorial brain structure false Inferred relationship Some 10
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence Congenital false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Cerebellar vermis structure false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Congenital anomaly false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Lateral aperture of fourth ventricle false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Foramen of Magendie false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Developmental abnormality false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Face structure false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Congenital dilatation false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Brain CSF pathway false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Cerebellar vermis structure false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Aplasia false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Congenital enlargement false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Entire head false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Structure of visual system false Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology Congenital cavitation false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Finding site Infratentorial brain structure false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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