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722033000: Macrocephaly, short stature, paraplegia syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3325083016 Macrocephaly, short stature, paraplegia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330236015 Macrocephaly, short stature, paraplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330237012 Volcke Soekarman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402781013 A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402782018 A rare, syndromic intellectual disability characterised by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. 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
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Dandy-Walker syndrome true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Macrocephaly false Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Congenital paraplegia false Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Spastic paraplegia true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Lateral aperture of fourth ventricle false Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Foramen of Magendie false Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 12
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 10
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 10
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Face structure false Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 11
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 11
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 12
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 12
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Congenital enlargement false Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Entire head false Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Entire head false Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 4
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Congenital enlargement false Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Macrocephaly, short stature, paraplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Infratentorial brain structure (body structure) true Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Macrocephaly, short stature, paraplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 3
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Congenital malrotation (morphologic abnormality) true Inferred relationship Some 3
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Fourth ventricle structure true Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 4
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Enlargement (morphologic abnormality) false Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Congenital macrocephaly (disorder) true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Interprets Head circumference true Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 10
Macrocephaly, short stature, paraplegia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 10
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a Extrapyramidal disease true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Interprets Movement true Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 11
Macrocephaly, short stature, paraplegia syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 12
Macrocephaly, short stature, paraplegia syndrome (disorder) Interprets Movement observable true Inferred relationship Some 13
Macrocephaly, short stature, paraplegia syndrome (disorder) Has interpretation Absent true Inferred relationship Some 13

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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