Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome   1177173001

SNOMED CT code


SNOMED code1177173001
nameCongenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
statusactive
date introduced2021-10-31
fully specified name(s)Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder)
synonyms
  • MYSM1 deficiency
  • Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
  • MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency
attributes - group3
InterpretsHeight / growth measure   271603002
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone marrow structure   14016003
Pathological processAbnormal immune process   769247005
Associated morphologyMyelodysplastic neoplasm with low blasts   1251519006
attributes - group2
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mass of body structure   300848003
      Hematologic neoplasm   129154003
        Neoplasm affecting hematopoietic structure   414823004
          Myelodysplastic syndrome (clinical)   109995007
            Myelodysplastic syndrome with low blasts   1260268001
              Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome   1177173001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Immuno-osseous dysplasia   254067002
            Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome   1177173001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome   1177173001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome   1177173001

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