364644000: Functional observable (observable entity)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

487809018 Functional observable en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

770915015 Functional observable (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Functional observable	Is a	Clinical history/examination observable (observable entity)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Inappropriate use of language in communication (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.	Interprets	False	Functional observable	Inferred relationship	Some
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.	Interprets	False	Functional observable	Inferred relationship	Some
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	Interprets	False	Functional observable	Inferred relationship	Some
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.	Interprets	False	Functional observable	Inferred relationship	Some
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.	Interprets	False	Functional observable	Inferred relationship	Some
Frenchay Activities Index score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.	Interprets	False	Functional observable	Inferred relationship	Some
Office of Population Census and Surveys communication disability scale score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Able to manage generalized pain (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Able to manage pain in body part (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Does use blended sounds	Interprets	False	Functional observable	Inferred relationship	Some
Does use consonant vowel consonant vowel combination (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Uses augmentative and alternative communication (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Nottingham Extended Activities of Daily Living Scale score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Able to use pragmatics in communication (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Adult victim of sexual abuse during military service (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Office of Population Census and Surveys disability scales score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Main spoken language Romany (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Romany as second language (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	Interprets	False	Functional observable	Inferred relationship	Some
Transfers using hoist (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Amyotrophic Lateral Sclerosis Functional Rating Scale Revised score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Disability Rating Scale score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Patient-Specific Functional Scale score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Epithelio-exfoliative colitis and deafness syndrome	Interprets	False	Functional observable	Inferred relationship	Some
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.	Interprets	False	Functional observable	Inferred relationship	Some
Abnormal finding on auditory function study (finding)	Interprets	False	Functional observable	Inferred relationship	Some
A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.	Interprets	False	Functional observable	Inferred relationship	Some
Does use high technology communication device (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Does use low technology communication device	Interprets	False	Functional observable	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Interprets	False	Functional observable	Inferred relationship	Some
Does use communication device (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Does use non-powered communication device (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Does use powered communication device (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Able to undertake multiple tasks (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Bay Area Functional Performance Evaluation total score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
A sighted guide is a person that escorts a visually impaired individual and assists them with for example reading of signs.	Interprets	False	Functional observable	Inferred relationship	Some
Decline in functional status (finding)	Interprets	False	Functional observable	Inferred relationship	Some	1
Wet voice (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Able to recognize own symptoms (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Able to learn basic skills (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Able to sequence tasks and activities (finding)	Interprets	False	Functional observable	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.	Interprets	False	Functional observable	Inferred relationship	Some
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	Interprets	False	Functional observable	Inferred relationship	Some
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss.	Interprets	False	Functional observable	Inferred relationship	Some
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.	Interprets	False	Functional observable	Inferred relationship	Some
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.	Interprets	False	Functional observable	Inferred relationship	Some
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.	Interprets	False	Functional observable	Inferred relationship	Some
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	Interprets	False	Functional observable	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.	Interprets	False	Functional observable	Inferred relationship	Some
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	Interprets	False	Functional observable	Inferred relationship	Some
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.	Interprets	False	Functional observable	Inferred relationship	Some
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent.	Interprets	False	Functional observable	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Interprets	False	Functional observable	Inferred relationship	Some
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.	Interprets	False	Functional observable	Inferred relationship	Some
Uses personal audio recording device to record information (finding)	Interprets	False	Functional observable	Inferred relationship	Some
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.	Interprets	False	Functional observable	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	Interprets	False	Functional observable	Inferred relationship	Some
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	Interprets	False	Functional observable	Inferred relationship	Some
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	Interprets	False	Functional observable	Inferred relationship	Some
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	Interprets	False	Functional observable	Inferred relationship	Some
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.	Interprets	False	Functional observable	Inferred relationship	Some
Acquired hearing loss (disorder)	Interprets	False	Functional observable	Inferred relationship	Some
Inherited distal renal tubular acidosis combined with sensorineural deafness.	Interprets	False	Functional observable	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.	Interprets	False	Functional observable	Inferred relationship	Some
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	Interprets	False	Functional observable	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome	Interprets	False	Functional observable	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome	Interprets	False	Functional observable	Inferred relationship	Some
A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.	Interprets	False	Functional observable	Inferred relationship	Some
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.	Interprets	False	Functional observable	Inferred relationship	Some
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	Interprets	False	Functional observable	Inferred relationship	Some
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.	Interprets	False	Functional observable	Inferred relationship	Some
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	Interprets	False	Functional observable	Inferred relationship	Some
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.	Interprets	False	Functional observable	Inferred relationship	Some
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.	Interprets	False	Functional observable	Inferred relationship	Some
High risk sexual behavior of adolescence (finding)	Interprets	False	Functional observable	Inferred relationship	Some
A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.	Interprets	False	Functional observable	Inferred relationship	Some
A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.	Interprets	False	Functional observable	Inferred relationship	Some
Hypospadias, hypertelorism, coloboma, deafness syndrome	Interprets	False	Functional observable	Inferred relationship	Some
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).	Interprets	False	Functional observable	Inferred relationship	Some
Barthel Index of Activities of Daily Living score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Activity Card Sort total score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Fear of sexual dysfunction (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Gender dysphoria in childhood (disorder)	Interprets	False	Functional observable	Inferred relationship	Some
Gender dysphoria in adolescence and adulthood (disorder)	Interprets	False	Functional observable	Inferred relationship	Some
Rookwood Driving Battery overall score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Evaluation of Social Interaction measure (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Child and Adolescent Scale of Participation total summary score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Detailed Assessment of Speed of Handwriting total standard score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Preferences for Activities of Children overall participation score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Movement Assessment Battery for Children Checklist Second Edition total score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Movement Assessment Battery for Children Second Edition total score (observable entity)	Is a	False	Functional observable	Inferred relationship	Some
Sexual dysfunction co-occurrent and due to prolapse of female genital organ (disorder)	Interprets	False	Functional observable	Inferred relationship	Some
Unable to have vaginal sexual intercourse co-occurrent and due to blockage of vagina (disorder)	Interprets	False	Functional observable	Inferred relationship	Some
Sexual dysfunction caused by psychoactive substance (finding)	Interprets	False	Functional observable	Inferred relationship	Some
Sexual dysfunction caused by substituted amphetamine drug	Interprets	False	Functional observable	Inferred relationship	Some
Sudden idiopathic hearing loss (disorder)	Interprets	False	Functional observable	Inferred relationship	Some
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	Interprets	False	Functional observable	Inferred relationship	Some
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	Interprets	False	Functional observable	Inferred relationship	Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	Interprets	False	Functional observable	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
487809018	Functional observable	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
770915015	Functional observable (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core