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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
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
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
3307380015 Thomas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401391015 Thomas syndrome is characterized by 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
5401392010 Thomas syndrome is characterised by 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
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
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
3307380015 Thomas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5401391015 Thomas syndrome is characterized by 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
5401392010 Thomas syndrome is characterised by 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
3391061001000112 Thomas-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5477561000241113 syndrome de séquence de Potter avec fente labiopalatine et cardiopathie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5477561000241113 syndrome de séquence de Potter avec fente labiopalatine et cardiopathie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391061001000112 Thomas-Syndrom 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
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) 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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