721220004: familiaire ontwikkelingsdysfasie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Speech finding\Disturbance in speech\Dysphasia\Developmental dysphasia\Familial developmental dysphasia (disorder)

\Neurological finding\Aphasia, agnosia, dyslexia AND/OR apraxia\Dyslexia AND/OR speech dysfunction\Dysphasia\Developmental dysphasia\Familial developmental dysphasia (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial developmental dysphasia (disorder)
\Disease\Familial disease\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

6358461000146117 familiaire ontwikkelingsdysfasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6358471000146111 Billard-Toutain-Maheut-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6358481000146113 syndroom van Billard-Toutain-Maheut nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6358501000146117 familiaire ontwikkelingsdysfasie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6601471000146119 familiaire OD nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial developmental dysphasia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial developmental dysphasia (disorder)	Is a	Familial disease	true	Inferred relationship	Some
Familial developmental dysphasia (disorder)	Is a	Developmental dysphasia	true	Inferred relationship	Some
Familial developmental dysphasia (disorder)	Interprets	Speech observable	true	Inferred relationship	Some	1

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This concept is not in any reference sets