773404000: Roifman syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Body measurement finding\Height / growth finding (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\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \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\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Genetic disease\Genetic intellectual disability\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital immunodeficiency disease\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.

Status: current, 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
5405239014	A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723412017	Roifman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723413010	Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723414016	Roifman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
909731000172116	syndrome de dysplasie spondylo-épiphysaire, dystrophie rétinienne, déficit immunitaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
911451000172117	syndrome de Roifman	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3381441001000116	Roifman-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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