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

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

\Viscus structure finding (finding)\Abdominal organ finding\...

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

\Liver finding\Disease of liver\...

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

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

\Digestive system finding (finding)\Liver finding\Disease of liver\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Digestive system finding (finding)\Liver finding\Disease of liver\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Abdominal organomegaly\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Abdominal organomegaly\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Abdominal organomegaly\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Abdominal organomegaly\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

\Congenital anomaly of musculoskeletal system\Congenital hyperplasia of muscle (disorder)\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital hyperplasia of muscle (disorder)\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital hyperplasia of muscle (disorder)\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Abdominal organomegaly\Large liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital hyperplasia of muscle (disorder)\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatomegaly\Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

3445071001000116 Muskelhypertrophie-Hepatomegalie-Polyhydramnion-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5535361000241118 syndrome d'hypertrophie musculaire, hépatomégalie et polyhydramnios fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5535361000241118 syndrome d'hypertrophie musculaire, hépatomégalie et polyhydramnios fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3445071001000116 Muskelhypertrophie-Hepatomegalie-Polyhydramnion-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Finding site	Skeletal muscle system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Finding site	Entire liver	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Congenital hyperplasia of muscle (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Congenital hepatomegaly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Associated morphology	Hyperplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets