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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\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
• \Disease\Genetic disease\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\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
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\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
• \Disease\Congenital disease\Congenital immunodeficiency disease\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\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
• \Disease\Developmental disorder\Developmental delay\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
4643879013	EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4643880011	Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643881010	Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643882015	EXTL3-related neuro-immuno-skeletal dysplasia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4643883013	Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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