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720819006: Curry Jones 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
3322179013 Curry Jones syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322181010 Curry Jones syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322182015 Agenesis of corpus callosum with polysyndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322180011 A form of syndromic craniosynostosis with characteristics of unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin, eyes and intestine. Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningocele and development of desmoplastic medulloblastoma have been reported. 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
Curry Jones syndrome localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 1
Curry Jones syndrome morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 1
Curry Jones syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Curry Jones syndrome survenue (attribut) congénital true Inferred relationship Some 1
Curry Jones syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Curry Jones syndrome survenue (attribut) congénital true Inferred relationship Some 3
Curry Jones syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Curry Jones syndrome localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some 2
Curry Jones syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Curry Jones syndrome morphologie associée (attribut) Aplasia true Inferred relationship Some 3
Curry Jones syndrome est un(e) (attribut) Partial agenesis of corpus callosum false Inferred relationship Some
Curry Jones syndrome localisation d'une constatation (attribut) Corpus callosum structure true Inferred relationship Some 3
Curry Jones syndrome est un(e) (attribut) Disorder of skull (disorder) false Inferred relationship Some
Curry Jones syndrome est un(e) (attribut) aplasie du corps calleux true Inferred relationship Some
Curry Jones syndrome est un(e) (attribut) syndrome de craniosynostose (trouble) true Inferred relationship Some
Curry Jones syndrome est un(e) (attribut) polysyndactylie (trouble) true Inferred relationship Some
Curry Jones syndrome morphologie associée (attribut) Supernumerary structure true Inferred relationship Some 2
Curry Jones syndrome localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 2
Curry Jones syndrome survenue (attribut) congénital true Inferred relationship Some 2
Curry Jones syndrome est un(e) (attribut) agénésie du corps calleux (trouble) false Inferred relationship Some
Curry Jones syndrome est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Curry Jones syndrome est un(e) (attribut) Acrocephalosyndactyly false Inferred relationship Some
Curry Jones syndrome localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some
Curry Jones syndrome survenue (attribut) congénital true Inferred relationship Some 4
Curry Jones syndrome survenue (attribut) congénital false Inferred relationship Some 5
Curry Jones syndrome morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 6
Curry Jones syndrome survenue (attribut) congénital false Inferred relationship Some 6
Curry Jones syndrome localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 6
Curry Jones syndrome morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 4
Curry Jones syndrome localisation d'une constatation (attribut) Joint structure of suture of skull true Inferred relationship Some 4
Curry Jones syndrome morphologie associée (attribut) Congenital absence false Inferred relationship Some 5
Curry Jones syndrome localisation d'une constatation (attribut) Entire corpus callosum false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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