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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
3330238019 This syndrome has characteristics of macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
13998821000172113 syndrome de Volcke-Soekarman fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
13998831000172111 syndrome de macrocéphalie, petite taille et paraplégie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
5081451000172112 syndroom van macrocefalie, kleine gestalte en paraplegie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
5081461000172114 syndroom van Volcke-Soekarman nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5081471000172117 Volcke-Soekarman-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


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 macrocéphalie 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 retard mental 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 (body 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

This concept is not in any reference sets

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