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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\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 (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of hematopoietic morphology\Myeloproliferative disorder (disorder)\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Malignant neoplasm of lymphoid, hematopoietic and/or related tissue (disorder)\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Malignant neoplasm of lymphoid, hematopoietic and/or related tissue (disorder)\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Neoplasm affecting hematopoietic structure (disorder)\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Myeloproliferative disorder (disorder)\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Neoplasm of bone marrow\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of body system\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Myelodysplastic syndrome (clinical)\Myelodysplastic syndrome with low blasts (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \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 (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia (disorder)\Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643865017	MYSM1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643866016	Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643867013	MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399458014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399459018	A rare multiple congenital anomalies/dysmorphic syndrome characterised by early-onset progressive bone marrow failure with anaemia, leucopenia, mild thrombopenia, and myelodysplastic features, as well as 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643864018	Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643865017	MYSM1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643866016	Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643867013	MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399458014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399459018	A rare multiple congenital anomalies/dysmorphic syndrome characterised by early-onset progressive bone marrow failure with anaemia, leucopenia, mild thrombopenia, and myelodysplastic features, as well as 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3417981001000118	Kongenitales progressives Knochenmarkversagen-B-Zell-Immundefekt-Skelettdysplasie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5897731000241111	déficit en MYSM1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5897741000241118	syndrome de pancytopénie progressive congénitale, déficit immunitaire en cellules B et dysplasie squelettique	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5897731000241111	déficit en MYSM1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5897741000241118	syndrome de pancytopénie progressive congénitale, déficit immunitaire en cellules B et dysplasie squelettique	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3417981001000118	Kongenitales progressives Knochenmarkversagen-B-Zell-Immundefekt-Skelettdysplasie-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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