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89454001: Shwachman syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Measurement finding\...

\White blood cell number - finding\White blood cell count abnormal (finding)\...

\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\neutropénie\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome

\Neutrophil count abnormal\neutropénie\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\insuffisance pancréatique\Shwachman syndrome

\Digestive system finding (finding)\constatation à propos du pancréas\Disorder of pancreas (disorder)\insuffisance pancréatique\Shwachman syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Shwachman syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Shwachman syndrome

\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...

\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Shwachman syndrome

\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\anomalie de la lignée blanche\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Shwachman syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Shwachman syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Shwachman syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Shwachman syndrome
\Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Congenital neutropenia\Shwachman syndrome
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia\Shwachman syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Shwachman syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Shwachman syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Shwachman syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Shwachman syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of pancreas (disorder)\insuffisance pancréatique\Shwachman syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Shwachman syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Shwachman syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Shwachman syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Shwachman syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Shwachman syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Shwachman syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Shwachman syndrome
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\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	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Shwachman syndrome	localisation d'une constatation (attribut)	structure du pancréas	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	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
Shwachman syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	4
Shwachman syndrome	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Shwachman syndrome	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	5
Shwachman syndrome	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
Shwachman syndrome	localisation d'une constatation (attribut)	système digestif	false	Inferred relationship	Some	1
Shwachman syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Shwachman syndrome	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Congenital anomaly of trunk	false	Inferred relationship	Some
Shwachman syndrome	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Shwachman syndrome	morphologie associée (attribut)	White blood cell abnormality	false	Inferred relationship	Some
Shwachman syndrome	est défini par la manifestation de (attribut)	constatation à propos des leucocytes	false	Inferred relationship	Some
Shwachman syndrome	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Congenital immunodeficiency disease	false	Inferred relationship	Some
Shwachman syndrome	est défini par la manifestation de (attribut)	neutropénie	false	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Congenital neutropenia	true	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Neutropenic disorder	false	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	insuffisance pancréatique	true	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	anomalie congénitale du système hématopoïétique	false	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Congenital anomaly of pancreas	false	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Multisystem disorder S-T (navigational concept)	false	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Congenital malformation of pancreas	false	Inferred relationship	Some
Shwachman syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Shwachman syndrome	localisation d'une constatation (attribut)	organe digestif (structure corporelle)	false	Inferred relationship	Some	2
Shwachman syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Shwachman syndrome	localisation d'une constatation (attribut)	organe digestif (structure corporelle)	false	Inferred relationship	Some	2
Shwachman syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Shwachman syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Shwachman syndrome	localisation d'une constatation (attribut)	structure du pancréas	false	Inferred relationship	Some	1
Shwachman syndrome	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
Shwachman syndrome	est un(e) (attribut)	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Shwachman syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Shwachman syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Shwachman syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	3
Shwachman syndrome	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	3
Shwachman syndrome	localisation d'une constatation (attribut)	structure du pancréas	false	Inferred relationship	Some	3
Shwachman syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	4
Shwachman syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Shwachman syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	4
Shwachman syndrome	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Shwachman syndrome	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Shwachman syndrome	interprète (attribut)	Neutrophil count	true	Inferred relationship	Some	1
Shwachman syndrome	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Shwachman syndrome	localisation d'une constatation (attribut)	Leucocyte	false	Inferred relationship	Some
Shwachman syndrome	localisation d'une constatation (attribut)	organe digestif (structure corporelle)	false	Inferred relationship	Some	2
Shwachman syndrome	localisation d'une constatation (attribut)	structure du pancréas	false	Inferred relationship	Some	1
Shwachman syndrome	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Shwachman syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Shwachman syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Shwachman syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Shwachman syndrome	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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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
269411000077112	syndrome de Shwachman-Diamond	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
550331000077119	syndrome de Shwachman-Diamond (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
832351017	Shwachman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core