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\Refractory cytopaenia with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Mass of body structure\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Myelodysplastic syndrome\Refractory cytopaenia 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\Musculoskeletal disorder\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\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\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\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 haematopoietic morphology\Myeloproliferative disorder\Myelodysplastic syndrome\Refractory cytopaenia with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of haematopoietic cell type\Malignant tumour of lymphoid haemopoietic and related tissue\Myelodysplastic syndrome\Refractory cytopaenia 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 tumour of lymphoid haemopoietic and related tissue\Myelodysplastic syndrome\Refractory cytopaenia with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Myelodysplastic syndrome\Refractory cytopaenia with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Neoplasm affecting haematopoietic structure\Myelodysplastic syndrome\Refractory cytopaenia with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Myeloproliferative disorder\Myelodysplastic syndrome\Refractory cytopaenia with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Neoplasm of bone marrow\Myelodysplastic syndrome\Refractory cytopaenia with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Myelodysplastic syndrome\Refractory cytopaenia with multilineage dysplasia\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\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\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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 anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

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 Initial character case insensitive SNOMED CT core

4643865017 MYSM1 deficiency en Synonym Active Case sensitive SNOMED CT core

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

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

4643868015 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombocytopenia and myelodysplastic features. There are also 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. en Definition Active Case sensitive SNOMED CT core

4643869011 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anaemia, leucopenia, mild thrombocytopenia and myelodysplastic features. There are also non-haematologic 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. en Definition Active Case sensitive SNOMED CT core

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	Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Is a	Refractory cytopaenia with multilineage dysplasia	true	Inferred relationship	Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Finding site	Bone marrow structure	true	Inferred relationship	Some	1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Associated morphology	Refractory cytopenia with multilineage dysplasia	true	Inferred relationship	Some	1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

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	Initial character case insensitive	SNOMED CT core
4643865017	MYSM1 deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4643866016	Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643867013	MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4643868015	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombocytopenia and myelodysplastic features. There are also 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.	en	Definition	Active	Case sensitive	SNOMED CT core
4643869011	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anaemia, leucopenia, mild thrombocytopenia and myelodysplastic features. There are also non-haematologic 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.	en	Definition	Active	Case sensitive	SNOMED CT core