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254067002: Immuno-osseous dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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

\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

\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Immuno-osseous dysplasia
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Immuno-osseous dysplasia
\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
\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
\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
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital immunodeficiency disease\Immuno-osseous dysplasia
\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
\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
\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
\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
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378219014 Immuno-osseous dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644908010 Immuno-osseous dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

989151000172110 dysplasie immuno-osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3386461001000114 Dysplasie, immuno-ossäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Immuno-osseous dysplasia	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Immuno-osseous dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Immuno-osseous dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Immuno-osseous dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Immuno-osseous dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Immuno-osseous dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Immuno-osseous dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Immuno-osseous dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Immuno-osseous dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Immuno-osseous dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Immuno-osseous dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Immuno-osseous dysplasia	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Immuno-osseous dysplasia	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Immuno-osseous dysplasia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Immuno-osseous dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Immuno-osseous dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Immuno-osseous dysplasia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Immuno-osseous dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.	Is a	True	Immuno-osseous dysplasia	Inferred relationship	Some
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.	Is a	True	Immuno-osseous dysplasia	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.	Is a	True	Immuno-osseous dysplasia	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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 and 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, as well as multiple liver cysts.	Is a	True	Immuno-osseous dysplasia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378219014	Immuno-osseous dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644908010	Immuno-osseous dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
989151000172110	dysplasie immuno-osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386461001000114	Dysplasie, immuno-ossäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module