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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior 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\Finding of intellectual ability\Intellectual disability\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Functional finding\Intelligence finding\Finding of intellectual ability\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\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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 malformation\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \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
• \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 malformation\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
• \Disease\Developmental disorder\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
• \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, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2021. Module: SNOMED CT core module

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	SNOMED CT core module
4643879013	EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4643880011	Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4643881010	Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4643882015	EXTL3-related neuro-immuno-skeletal dysplasia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4643883013	Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start