773584001: Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\...

\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Multiple system malformation syndrome\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

Status: current. Date: 31-Jan 2019

Descriptions:

Id Description Lang Type Status Case? Module

3724292014 Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724293016 Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724839014 A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405316018 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405317010 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterised by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. 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
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Autosomal dominant hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Congenital hepatomegaly	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Multiple system malformation syndrome	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Associated morphology	Enlargement (morphologic abnormality)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Finding site	Entire liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Associated morphology	Hyperplasia	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Finding site	Skeletal muscle system structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

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
3724292014	Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724293016	Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724839014	A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405316018	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405317010	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterised by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core