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89454001: Shwachman-Diamond-syndroom (aandoening)

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

\Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Shwachman syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Shwachman syndrome

\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\Shwachman syndrome

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Shwachman syndrome

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome

\Procedure related finding\Evaluation finding\Measurement finding\...

\White blood cell number - finding\White blood cell count outside reference range\...

\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome

\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Shwachman syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Shwachman syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Shwachman syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Shwachman syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Shwachman syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital neutropenia\Shwachman syndrome
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Shwachman syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Shwachman syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Shwachman syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Shwachman syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Shwachman syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Shwachman syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Pancreatic insufficiency\Shwachman syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Shwachman syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Shwachman syndrome	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Shwachman syndrome	Is a	Neutropenic disorder	false	Inferred relationship	Some
Shwachman syndrome	Is a	Pancreatic insufficiency	true	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital anomaly of pancreas	false	Inferred relationship	Some
Shwachman syndrome	Is a	Multisystem disorder S-T	false	Inferred relationship	Some
Shwachman syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Leucocyte	false	Inferred relationship	Some
Shwachman syndrome	Finding site	Digestive organ structure	false	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Pancreatic structure	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Shwachman syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Shwachman syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Shwachman syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Shwachman syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
Shwachman syndrome	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some	1
Shwachman syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Shwachman syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Shwachman syndrome	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Some
Shwachman syndrome	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Shwachman syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital immunodeficiency disease	false	Inferred relationship	Some
Shwachman syndrome	Has definitional manifestation	Neutropenia	false	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital neutropenia	true	Inferred relationship	Some
Shwachman syndrome	Is a	Congenital malformation of pancreas	false	Inferred relationship	Some
Shwachman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Digestive organ structure	false	Inferred relationship	Some	2
Shwachman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Digestive organ structure	false	Inferred relationship	Some	2
Shwachman syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Shwachman syndrome	Finding site	Pancreatic structure	false	Inferred relationship	Some	1
Shwachman syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Shwachman syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Shwachman syndrome	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Shwachman syndrome	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Shwachman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Shwachman syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Shwachman syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Shwachman syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Shwachman syndrome	Finding site	Pancreatic structure	false	Inferred relationship	Some	3
Shwachman syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Shwachman syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	3
Shwachman syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	4
Shwachman syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Shwachman syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Shwachman syndrome	Interprets	Neutrophil count	true	Inferred relationship	Some	1
Shwachman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Shwachman syndrome	Finding site	Pancreatic structure	true	Inferred relationship	Some	2
Shwachman syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Shwachman syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Shwachman syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Shwachman syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	4
Shwachman syndrome	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Shwachman syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Shwachman syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Shwachman syndrome	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

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
148318012	Shwachman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
148320010	Shwachman-Diamond syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
148321014	Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508513012	Metaphyseal dysplasia with malabsorption and neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508514018	Metaphyseal chondrodysplasia, Shwachman type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508515017	Schwachman's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508516016	Schwachman-Diamond syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508517013	Schwachman-Bodian syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508518015	Shwachman's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508519011	Congenital lipomatosis of pancreas	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508520017	Schwachmann-Diamond syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
832351017	Shwachman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
687861000146119	syndroom van Shwachman-Diamond	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672201000146115	Shwachman-Diamond-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672211000146118	Shwachman-Diamond-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13083241000146112	Erfelijke aandoening met als kenmerken een verminderd aantal witte bloedlichaampjes, verminderde werking van de alvleesklier en achterblijvende groei.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)