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229721007: Speech delay (disorder)


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
1671451000005110 sen til at tale da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


7 descendants. Search Descendants:

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
objektivt: sen til at tale Associated finding False Speech delay Inferred relationship Some 1
objektivt: sen til at tale 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-Harbour syndrome Is a True Speech delay Inferred relationship Some
A rare genetic syndromic intellectual disability characterised by mild to severe global developmental delay, intellectual disability and behavioural 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

This concept is not in any reference sets

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