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1172604004: Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634555013 DIAPH1-related sensorineural deafness, thrombocytopenia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634556014 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634560012 Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634561011 Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399346013 A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399347016 A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634555013 DIAPH1-related sensorineural deafness, thrombocytopenia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634556014 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634560012 Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634561011 Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634559019 A rare genetic disease with characteristics of progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399346013 A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399347016 A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450491001000119 Sensorineuraler Hörverlust-Thrombozytopenie-Syndrom, DIAPH1-assoziiertes de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6087941000241119 syndrome de surdité neurosensorielle et thrombocytopénie associé au gène 'diaphanous related formin 1' fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6087951000241116 syndrome de surdité neurosensorielle et thrombocytopénie associé à DIAPH1 (diaphanous related formin 1) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6087941000241119 syndrome de surdité neurosensorielle et thrombocytopénie associé au gène 'diaphanous related formin 1' fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6087951000241116 syndrome de surdité neurosensorielle et thrombocytopénie associé à DIAPH1 (diaphanous related formin 1) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450491001000119 Sensorineuraler Hörverlust-Thrombozytopenie-Syndrom, DIAPH1-assoziiertes 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
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a Chronic disease true Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a Hereditary thrombocytopenic disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 4
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 1
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 2
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 3
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Has interpretation Below reference range 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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