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1292992004: Component annotation with string value reference set (foundation metadata concept)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT model component

Descriptions:

Id Description Lang Type Status Case? Module
5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component

8429 members. Search Members:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Component annotation with string value reference set (foundation metadata concept) Is a Reference set true Inferred relationship Existential restriction modifier (core metadata concept)
Members languageDialectCode typeId value
X-linked spastic paraplegia type 34 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spastic paraplegia type 34 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spinocerebellar ataxia type 3 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spinocerebellar ataxia type 3 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spinocerebellar ataxia type 4 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spinocerebellar ataxia type 4 en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spondyloepimetaphyseal dysplasia en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
X-linked spondyloepimetaphyseal dysplasia en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
XK aprosencephaly syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
XK aprosencephaly syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
XY type gonadal dysgenesis with associated anomalies syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
XY type gonadal dysgenesis with associated anomalies syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Xq12-q13.3 duplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Xq12-q13.3 duplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Young onset Parkinson disease (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Young onset Parkinson disease (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Zellweger-like syndrome without peroxisomal anomaly (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
Zellweger-like syndrome without peroxisomal anomaly (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
NDE1-related microhydranencephaly en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
NDE1-related microhydranencephaly en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet

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