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733417008: syndrome de dysmorphie-macrocéphalie-myopie-malformation de Dandy-Walker (trouble)


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
3499396013 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499397016 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
763031000241117 syndrome de dysmorphie-macrocéphalie-myopie-malformation de Dandy-Walker (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
944601000172111 syndrome de dysmorphie-macrocéphalie-myopie-malformation de Dandy-Walker fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) 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 (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Entire head false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Structure of visual system (body structure) true Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Fourth ventricle structure false Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Congenital malrotation (morphologic abnormality) true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Fourth ventricle structure true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Congenital macrocephaly (disorder) true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) interprète (attribut) Head circumference true Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) syndrome de Dandy-Walker true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Macrocephaly false Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Severe myopia true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 10
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 10
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Lateral aperture of fourth ventricle false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Foramen of Magendie false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Aplasia false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Entire head false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Structure of visual system (body structure) false Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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