723829000: Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome (disorder)

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

\Viscus structure finding (finding)\Liver finding\...

\Liver mass\Space occupying lesion of liver\Nodule of liver\Nodular hyperplasia of liver\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome

\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Space occupying lesion of liver\Nodule of liver\Nodular hyperplasia of liver\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease of liver\Structural abnormality of liver (disorder)\Liver regeneration\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease of liver\Chronic liver disease\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Liver finding\Liver mass\Space occupying lesion of liver\Nodule of liver\Nodular hyperplasia of liver\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Space occupying lesion of liver\Nodule of liver\Nodular hyperplasia of liver\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Liver regeneration\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Liver finding\Disease of liver\Chronic liver disease\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Space occupying lesion of liver\Nodule of liver\Nodular hyperplasia of liver\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Liver regeneration\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Chronic liver disease\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome

\Disease\Genetic disease\Hereditary disease\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Space occupying lesion of liver\Nodule of liver\Nodular hyperplasia of liver\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Liver regeneration\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease\Disorder of body system\Disease of liver\Chronic liver disease\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Space occupying lesion of liver\Nodule of liver\Nodular hyperplasia of liver\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Liver regeneration\Nodular regenerative hyperplasia of liver\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Chronic liver disease\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
\Disease\Idiopathic disease\Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome

Status: current. Date: 31-Jul 2017

Descriptions:

Id Description Lang Type Status Case? Module

3426307015 Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three inherited morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3426308013 Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426309017 Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4361392012 A rare disease with three inherited morbidities; idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
4361393019 Trimorphic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403172019 A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Is a	Disorder of thorax (disorder)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Is a	Chronic liver disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Is a	Hereditary disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Is a	Idiopathic disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Is a	Nodular regenerative hyperplasia of liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Associated morphology	Fibrosis	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Finding site	Lung structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Associated morphology	Hypoplasia	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Finding site	Bone marrow structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Associated morphology	Inflammation and consolidation (morphologic abnormality)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Finding site	Structure of interstitial tissue of lung	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Associated morphology	Nodular regenerative hyperplasia	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	4
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	4
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	Clinical course	Chronic	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	5

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
3426307015	Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three inherited morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3426308013	Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3426309017	Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4361392012	A rare disease with three inherited morbidities; idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
4361393019	Trimorphic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403172019	A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core