229721007: Speech delay (disorder)

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

\Functional finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay
\Functional finding\Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay

\Speech finding\Speech and language finding\...

\Communication, speech and language finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay

\Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay

\Disease\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay
\Disease\Developmental disorder\Developmental language disorder\Developmental speech disorder\Speech delay
\Disease\Developmental disorder\Developmental delay\Speech delay

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

344353010 Slow to talk en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

344354016 Speech delay en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

617451017 Speech delay (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

249981000172110 retard de langage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

418151000274112 Sprachentwicklungsverzögerung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Speech delay	Is a	Developmental speech disorder	true	Inferred relationship	Some
Speech delay	Finding site	Brain structure	false	Inferred relationship	Some
Speech delay	Interprets	Ability to perform functions related to communication	true	Inferred relationship	Some	1
Speech delay	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Speech delay	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Speech delay	Interprets	Speech and language observable	false	Inferred relationship	Some	3
Speech delay	Is a	Developmental delay	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
à l'examen : retard du langage	Associated finding	False	Speech delay	Inferred relationship	Some	1
à l'examen : retard du langage	Is a	False	Speech delay	Inferred relationship	Some
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.	Is a	True	Speech delay	Inferred relationship	Some
Floating-Harbor syndrome	Is a	True	Speech delay	Inferred relationship	Some
Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	Is a	True	Speech delay	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, developmental delay, macrocephaly, speech delay, and hypotonia. Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia.	Is a	True	Speech delay	Inferred relationship	Some
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.	Is a	True	Speech delay	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors.	Is a	True	Speech delay	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and ophthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities.	Is a	True	Speech delay	Inferred relationship	Some
A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, esotropia, strabismus, and nystagmus).	Is a	True	Speech delay	Inferred relationship	Some
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present.	Is a	True	Speech delay	Inferred relationship	Some

This concept is not in any reference sets