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

\Disorder of digit\Congenital anomaly of digit (disorder)\Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)

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

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

3978451000052115 syndrom med multinodulär struma, cystnjure och polydaktyli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

Inbound Relationships

Characteristic

Refinability

Reference Sets

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
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
3978451000052115	syndrom med multinodulär struma, cystnjure och polydaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)