1177173001: Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia 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\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia 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\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia 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\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome

\Disease\Genetic disease\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of hematopoietic cell proliferation\Myeloproliferative disorder\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of hematopoietic cell type\Malignant tumor of lymphoid, hemopoietic AND/OR related tissue\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Malignant neoplastic disease\Malignant tumor of lymphoid, hemopoietic AND/OR related tissue\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Hematologic neoplasm\Neoplasm affecting hematopoietic structure\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of hematopoietic structure\Neoplasm affecting hematopoietic structure\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of hematopoietic structure\Bone marrow disorder\Myeloproliferative disorder\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of hematopoietic structure\Bone marrow disorder\Neoplasm of bone marrow\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Hematologic neoplasm\Neoplasm affecting hematopoietic structure\Myelodysplastic syndrome\Myelodysplastic syndrome with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia 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\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia 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\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia 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\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia 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

4643864018 Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4643865017 MYSM1 deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

4643866016 Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

4643867013 MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Is a	Immuno-osseous dysplasia	true	Inferred relationship	Existential restriction modifier
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Is a	Myelodysplastic syndrome with multilineage dysplasia	true	Inferred relationship	Existential restriction modifier
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Finding site	Bone marrow structure	true	Inferred relationship	Existential restriction modifier	1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Associated morphology	Myelodysplastic syndrome with multilineage dysplasia	true	Inferred relationship	Existential restriction modifier	1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4643864018	Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4643865017	MYSM1 deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4643866016	Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4643867013	MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module