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721220004: Familial developmental dysphasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324652014 Familial developmental dysphasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324653016 Familial developmental dysphasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324654010 Billard Toutain Maheut syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402640010 Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402641014 Familial developmental dysphasia is a severe form of developmental verbal apraxia characterised by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324652014 Familial developmental dysphasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324652014 Familial developmental dysphasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324653016 Familial developmental dysphasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324653016 Familial developmental dysphasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324654010 Billard Toutain Maheut syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324655011 A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402640010 Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402641014 Familial developmental dysphasia is a severe form of developmental verbal apraxia characterised by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3449651001000117 Dysphasie, familiäre kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
951911000172118 dysphasie associée à FOXP2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970501000172119 dysphasie congénitale familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
951911000172118 dysphasie associée à FOXP2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970501000172119 dysphasie congénitale familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449651001000117 Dysphasie, familiäre kongenitale 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
Familial developmental dysphasia Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial developmental dysphasia Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial developmental dysphasia Is a Developmental dysphasia (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial developmental dysphasia Interprets Speech observable (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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