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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Entire head false Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 4
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) 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) localisation d'une constatation (attribut) face 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) localisation d'une constatation (attribut) Infratentorial brain structure true Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) survenue (attribut) congénital 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) survenue (attribut) congénital false Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) survenue (attribut) congénital 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) survenue (attribut) congénital true Inferred relationship Some 4
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 3
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Congenital malrotation (morphologic abnormality) true Inferred relationship Some 3
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Fourth ventricle structure true Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 4
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) false Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) Congenital macrocephaly (disorder) true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) interprète (attribut) Head circumference true Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) syndrome de Dandy-Walker true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) Macrocephaly false Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) Congenital paraplegia false Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) Spastic paraplegia true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Lateral aperture of fourth ventricle false Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Foramen of Magendie false Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 12
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Aplasia false Inferred relationship Some 10
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 10
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 11
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 11
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 12
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 12
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome (disorder) localisation d'une constatation (attribut) Entire head false Inferred relationship Some 8
Macrocephaly, short stature, paraplegia 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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