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723409007: Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3424469017 Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424470016 Multinodular goiter, cystic kidney, polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424471017 Multinodular goitre, cystic kidney, polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424472012 Daneman Davy Mancer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424473019 Thyroid, renal, digital anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403047017 Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403048010 Multinodular goitre - cystic kidney - polydactyly syndrome is a very rare syndrome characterised by the association of multinodular goitre, cystic renal disease and digital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424469017 Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424470016 Multinodular goiter, cystic kidney, polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424471017 Multinodular goitre, cystic kidney, polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424472012 Daneman Davy Mancer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424473019 Thyroid, renal, digital anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424474013 A very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424475014 A very rare syndrome characterised by the association of multinodular goitre, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalised thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goitre and/or digitalised thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403047017 Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403048010 Multinodular goitre - cystic kidney - polydactyly syndrome is a very rare syndrome characterised by the association of multinodular goitre, cystic renal disease and digital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452561001000112 Struma, mehrknotig - Nierenzysten - Polydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870191000172110 syndrome de goitre multinodulaire-rein kystique-polydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909021000172116 anomalies thyroïde-rein-doigts fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870191000172110 syndrome de goitre multinodulaire-rein kystique-polydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909021000172116 anomalies thyroïde-rein-doigts fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452561001000112 Struma, mehrknotig - Nierenzysten - Polydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Congenital cystic kidney disease false Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Multinodular goitre true Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Congenital anomaly of digit true Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Hereditary nephropathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology Nodular hyperplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Multinodular goiter, cystic kidney, polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Thyroid structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Multinodular goiter, cystic kidney, polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Multinodular goiter, cystic kidney, polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology Enlargement (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Entire thyroid gland false Inferred relationship Existential restriction modifier (core metadata concept) 7
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology Polycystic change false Inferred relationship Existential restriction modifier (core metadata concept) 6
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Multinodular goiter, cystic kidney, polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multinodular goiter, cystic kidney, polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multinodular goiter, cystic kidney, polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Multinodular goiter, cystic kidney, polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Congenital anomaly of the thyroid gland true Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multinodular goiter, cystic kidney, polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology Nodular hyperplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Thyroid structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology Polycystic change true Inferred relationship Existential restriction modifier (core metadata concept) 3
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Autosomal dominant polycystic kidney disease true Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Entire thyroid gland true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multinodular goiter, cystic kidney, polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Multinodular goiter, cystic kidney, polydactyly syndrome Associated morphology Multinodular hyperplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Multinodular goiter, cystic kidney, polydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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