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723336008: Fallot complex with intellectual disability and growth delay 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
3425869015 Bindewald Ulmer Muller syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425870019 Fallot complex with intellectual disability and growth delay syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425871015 Fallot complex with intellectual disability and growth delay syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403008019 Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403009010 Fallot complex - intellectual deficit - growth delay is a rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425869015 Bindewald Ulmer Muller syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425870019 Fallot complex with intellectual disability and growth delay syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425871015 Fallot complex with intellectual disability and growth delay syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425867018 A rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modelled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425868011 A rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403008019 Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403009010 Fallot complex - intellectual deficit - growth delay is a rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3396101001000118 Fallot-Tetralogie mit Intelligenzminderung und Wachstumsverzögerungen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948031000172116 syndrome de Bindewald-Ulmer-Müller fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001451000172114 syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
948031000172116 syndrome de Bindewald-Ulmer-Müller fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001451000172114 syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396101001000118 Fallot-Tetralogie mit Intelligenzminderung und Wachstumsverzögerungen 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
Fallot complex with intellectual disability and growth delay syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fallot complex with intellectual disability and growth delay syndrome (disorder) Is a Tetralogy of Fallot true Inferred relationship Existential restriction modifier (core metadata concept)
Fallot complex with intellectual disability and growth delay syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Fallot complex with intellectual disability and growth delay syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fallot complex with intellectual disability and growth delay syndrome (disorder) Is a Growth retardation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Hypertrophy false Inferred relationship Existential restriction modifier (core metadata concept) 8
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Entire right cardiac ventricle false Inferred relationship Existential restriction modifier (core metadata concept) 8
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 9
Fallot complex with intellectual disability and growth delay syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Fallot complex with intellectual disability and growth delay syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Interventricular septum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 10
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Overriding structures (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Thoracic aorta structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Fallot complex with intellectual disability and growth delay syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Aortic structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Stenosis false Inferred relationship Existential restriction modifier (core metadata concept) 6
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Pulmonary valve structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 10
Fallot complex with intellectual disability and growth delay syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Fallot complex with intellectual disability and growth delay syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Entire right cardiac ventricle true Inferred relationship Existential restriction modifier (core metadata concept) 4
Fallot complex with intellectual disability and growth delay syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Thoracic aorta structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 4
Fallot complex with intellectual disability and growth delay syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Overriding structures (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fallot complex with intellectual disability and growth delay syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Pulmonary valve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Stenosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fallot complex with intellectual disability and growth delay syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fallot complex with intellectual disability and growth delay syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fallot complex with intellectual disability and growth delay syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Fallot complex with intellectual disability and growth delay syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Fallot complex with intellectual disability and growth delay syndrome (disorder) Finding site Interventricular septum structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Fallot complex with intellectual disability and growth delay syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Growth retardation true Inferred relationship Existential restriction modifier (core metadata concept) 5
Fallot complex with intellectual disability and growth delay syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Fallot complex with intellectual disability and growth delay syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Fallot complex with intellectual disability and growth delay syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Fallot complex with intellectual disability and growth delay syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Fallot complex with intellectual disability and growth delay syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Fallot complex with intellectual disability and growth delay syndrome (disorder) Associated morphology Abnormal communication (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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