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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 Is a Agenesis of corpus callosum false Inferred relationship Some
Curry Jones syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Curry Jones syndrome Is a Acrocephalosyndactyly false Inferred relationship Some
Curry Jones syndrome Finding site Bone structure of cranium false Inferred relationship Some
Curry Jones syndrome Occurrence Congenital true Inferred relationship Some 4
Curry Jones syndrome Occurrence Congenital false Inferred relationship Some 5
Curry Jones syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 6
Curry Jones syndrome Occurrence Congenital false Inferred relationship Some 6
Curry Jones syndrome Finding site Digit structure false Inferred relationship Some 6
Curry Jones syndrome Associated morphology Congenital premature fusion false Inferred relationship Some 4
Curry Jones syndrome Finding site Joint structure of suture of skull true Inferred relationship Some 4
Curry Jones syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 5
Curry Jones syndrome Finding site Entire corpus callosum false Inferred relationship Some 5
Curry Jones syndrome Finding site Digit structure true Inferred relationship Some 1
Curry Jones syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Curry Jones syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Curry Jones syndrome Occurrence Congenital true Inferred relationship Some 1
Curry Jones syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Curry Jones syndrome Occurrence Congenital true Inferred relationship Some 3
Curry Jones syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Curry Jones syndrome Finding site Bone structure of cranium false Inferred relationship Some 2
Curry Jones syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Curry Jones syndrome Associated morphology Aplasia true Inferred relationship Some 3
Curry Jones syndrome Is a Partial agenesis of corpus callosum false Inferred relationship Some
Curry Jones syndrome Finding site Corpus callosum structure true Inferred relationship Some 3
Curry Jones syndrome Is a Disorder of skull (disorder) false Inferred relationship Some
Curry Jones syndrome Is a Aplasia of corpus callosum true Inferred relationship Some
Curry Jones syndrome Is a Craniosynostosis syndrome true Inferred relationship Some
Curry Jones syndrome Is a Polysyndactyly (disorder) true Inferred relationship Some
Curry Jones syndrome Associated morphology Supernumerary structure true Inferred relationship Some 2
Curry Jones syndrome Finding site Digit structure true Inferred relationship Some 2
Curry Jones syndrome Occurrence Congenital true Inferred relationship Some 2
Curry Jones syndrome Associated morphology Premature fusion true Inferred relationship Some 4
Curry Jones syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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