1177175008: Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\Genetic disease\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\retard de développement\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4643878017	Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643879013	EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643880011	Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643881010	Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643882015	EXTL3-related neuro-immuno-skeletal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643883013	Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643884019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the association of developmental delay, variable intellectual disability, skeletal dysplasia and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands, feet and pelvis, platyspondyly, cervical malformation and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism and broad nasal tip may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus and muscular hypotonia, along with multiple liver cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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