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716740009: Potter sequence cleft lip and palate cardiopathy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3307378014 Potter sequence cleft lip and palate cardiopathy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3307379018 Potter sequence cleft lip and palate cardiopathy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3307380015 Thomas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3307381016 Thomas syndrome has characteristics of renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2097711000172114 syndrome de séquence de Potter avec fente labiopalatine et cardiopathie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2097721000172116 syndrome de cardiopathie de la fente labiopalatine de Potter fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2097671000172110 "syndroom van Potter-sequentie, cheilopalatoschisis en hartziekte" nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2097681000172113 syndroom van Thomas nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2097691000172111 "syndroom van Potter-sequentie, gespleten gehemelte met gespleten lip en hartaandoening" nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2097701000172111 "syndroom van Potter-sequentie, gespleten gehemelte met gespleten lip en hartafwijking" nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Finding site Heart structure false Inferred relationship Some 3
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Finding site Heart structure true Inferred relationship Some 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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