FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

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


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
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
4012131000052118 syndrom med ansiktsmissbildning, makrocefali, myopi och Dandy-Walkers missbildning sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Dandy-Walker syndrome true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a makrocefali false Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Severe myopia true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a mental retardation false Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology kongenital kavitet false Inferred relationship Some 10
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 10
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology kongenital anomali false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Lateral aperture of fourth ventricle false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Foramen of Magendie false Inferred relationship Some 12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Face structure false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology kongenital dilatation false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology medfödd förstoring false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Entire head false Inferred relationship Some 11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Structure of visual system (body structure) false Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology kongenital kavitet false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site 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) Finding site 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) Associated morphology medfödd förstoring false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Structure of visual system (body structure) true Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology kongenital kavitet false Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Fourth ventricle structure false Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology Congenital malrotation (morphologic abnormality) true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology Enlargement (morphologic abnormality) false Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Fourth ventricle structure true Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Finding site Infratentorial brain structure (body structure) true Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a Congenital macrocephaly (disorder) true Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Interprets Head circumference true Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start